Mental retardation causes: Difference between revisions

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{{Mental retardation}}
{{Mental retardation}}
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== Causes ==
==Overview==
Possible [[causes]] for intellectual disability can be divided into [[genetic]] causes and [[environmental]] factors.


===Common Causes===
==Causes==
[[Down syndrome]], [[fetal alcohol syndrome]] and [[Fragile X syndrome]] are the three most common inborn causes. However, doctors have found many other causes. The most common are:
In less than 50% of individuals with [[mild]] ID, a specific cause is identified, and it increases to 75% in those with [[severe]] ID. <ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref>
===Genetics===
[[Down syndrome]] [[(Trisomy 21)]] is the most common [[genetic]] [[cause]] of ID, while [[Fragile X]] is the most common [[inherited]] [[cause]] of ID.
<ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref>


* Genetic conditions. Sometimes disability is caused by abnormal genes inherited from parents, errors when genes combine, or other reasons. Examples of genetic conditions include [[Down syndrome]], [[Fragile X syndrome]], [[22q13 deletion syndrome|Phelan-McDermid syndrome (22q13del)]], [[Mowat-Wilson syndrome]], [[Lesch-Nyhan syndrome]], [[Rett syndrome]], [[Sanfilippo syndrome]], and [[phenylketonuria]] (PKU).
===Environmental Factors===
* Problems during pregnancy. Mental disability can result when the [[fetus]] does not develop inside the mother properly. For example, there may be a problem with the way the fetus's cells divide as it grows. A woman who drinks alcohol (see [[fetal alcohol syndrome]]) or gets an infection like [[rubella]] during pregnancy may also have a baby with mental disability.
[[Alcohol]] [[exposure]] during [[pregnancy]], [[lead]] and other [[heavy metals]], [[iodine deficiency]], [[brain infections]], [[congenital rubella syndrome]], and [[cytomegalovirus infections]], as well as [[hypoxic-ischemic injury]], and [[periventricular hemorrhages]] all cause [[brain injury]] resulting in [[disability]]. <ref>{{cite web |url=http://www.diva-portal.org/smash/record.jsf?pid=diva2%3A163146&dswid=-7424 |title=Intellectual Disability and Mental Health Problems : Evaluation of Two Clinical Assessment Instruments, Occurrence of Mental Health Problems and Psychiatric Care Utilisation |format= |work= |accessdate=}}</ref>
* Problems at birth. If a baby has problems during labor and birth, such as not getting enough oxygen, he or she may have developmental disability due to brain damage.
* Health problems. Diseases like [[whooping cough]],  [[measles]], or [[meningitis]] can cause mental disability. It can also be caused by not getting enough medical care, or by being exposed to [[poison]]s like [[lead]] or [[Mercury (element)|mercury]].
* [[Iodine deficiency]], affecting approximately 2 billion people worldwide, is the leading preventable cause of mental disability in areas of the developing world where iodine deficiency is endemic. Iodine deficiency also causes [[goitre|goiter]], an enlargement of the [[thyroid gland]]. More common than full-fledged [[cretinism]], as retardation caused by severe iodine deficiency is called, is mild impairment of intelligence. Certain areas of the world due to natural deficiency and governmental inaction are severely affected. [[India]] is the most outstanding, with 500 million suffering from deficiency, 54 million from goiter, and 2 million from cretinism. Among other nations affected by iodine deficiency, [[Peoples Republic of China|China]] and [[Kazakhstan]] have begun taking action, while [[Russia]] has not. <ref>[http://www.nytimes.com/2006/12/16/health/16iodine.html "In Raising the World’s I.Q., the Secret’s in the Salt"], article by Donald G. McNeil, Jr., December 16, 2006, ''[[New York Times]]''</ref>
* [[Malnutrition]] is a common cause of reduced intelligence in parts of the world affected by [[famine]], such as [[Ethiopia]]. <ref>[http://www.nytimes.com/2006/12/28/world/africa/28malnutrition.html "Malnutrition Is Cheating Its Survivors, and Africa’s Future"] article in the [[New York Times]] by Michael Wines, December 28, 2006</ref>
* The use of [[forceps]] during birth can <!-- often --> lead to mental retardation in an otherwise normal child.  They can fracture the skull and cause brain damage.
* [[Institutionalisation]] at a young age can cause mental retardation in normal children.
* [[Sensory deprivation]] in the form of severe environmental restrictions (such as being locked in a basement or under a staircase), prolonged isolation, or severe atypical parent-child interactions.
* Psycho-social disadvantage.  Contributing factors are lack of reading material, use of a language not common in that community, poor diet, poor health practices, and poor housing.
 
===Causes in Alphabetical Order===
{{columns-list|3|
*[[10q partial trisomy]]
*[[11q partial trisomy ]]
*[[14q+ syndrome]]
*[[17- beta-hydroxysteroid dehydrogenase x deficiency]]
*[[18p minus syndrome ]]
*[[1q deletion ]]
*[[22q13 deletion syndrome]]
*[[2-hydroxyglutaricaciduria ]]
*[[2-methylbutyryl-coenzyme a dehydrogenase deficiency]]
*[[2p21 deletion syndrome ]]
*[[2q deletion ]]
*[[3c syndrome ]]
*[[3-hydroxyisobutyryl-coa hydrolase deficiency]]
*[[3-methylglutaconic aciduria type 1]]
*[[3-methylglutaconic aciduria type 3]]
*[[3-methylglutaconic aciduria type 4]]
*[[3q deletion ]]
*[[46,xx chromosome 7 deletion p13]]
*[[47,xxx aneuploidy]]
*[[47,xxx syndrome]]
*[[47,xyy syndrome]]
*[[48,xxxy aneuploidy]]
*[[48,xxxy syndrome]]
*[[49,xxxxx syndrome]]
*[[4-hydroxyphenylacetic aciduria ]]
*[[6-pyruvoyl tetrahydropterin synthase deficiency ]]
*[[Aarskog syndrome ]]
*[[Acanthocytosis ]]
*[[Acidemia]]
*[[Acrocallosal syndrome ]]
*[[Acrocephalopolydactyly ii ]]
*[[Acrocephaly ]]
*[[Acrofacial dysostosis ]]
*[[Acrofrontofacionasal dysostosis syndrome ]]
*[[Acromesomelic dysplasia ]]
*[[Acropectorovertebral dysplasia ]]
*[[Acrosphenosyndactylia ]]
*[[Adducted thumb syndrome recessive form ]]
*[[Adenylosuccinate lyase deficiency]]
*[[Adrenoleukodystrophy ]]
*[[Agenesis of the corpus callosum ]]
*[[Agyria pachygyria polymicrogyria ]]
*[[Agyria pachygyria type 1 ]]
*[[Aicardi goutieres syndrome ]]
*[[Aicardi's syndrome]]
*[[Akesson syndrome]]
*[[Al gazali aziz salem syndrome ]]
*[[Al gazali sabrinathan nair syndrome ]]
*[[Albers-schonberg disease ]]
*[[Albright's hereditary osteodystrophy ]]
*[[Aldred syndrome ]]
*[[Alexander disease]]
*[[Allan-herndon-dudley syndrome]]
*[[Allan-herndon-dudley syndrome ]]
*[[Alopecia mental retardation syndrome ]]
*[[Alpers syndrome ]]
*[[Alpha thalassaemia x-linked mental retardation syndrome]]
*[[Alpha-ketoglutarate dehydrogenase deficiency]]
*[[Alpha-l-iduronidase deficiency]]
*[[Alpha-l-iduronidase deficiency ]]
*[[Alpha-mannosidase deficiency]]
*[[Alpha-thalassemia]]
*[[Alpha-thalassemia, deletion type]]
*[[Alport syndrome ]]
*[[Aminoacidopathies ]]
*[[Aminomethyltransferase deficiency]]
*[[Ampola syndrome ]]
*[[Amyloidosis of gingiva and conjunctiva ]]
*[[Anauxetic dysplasia ]]
*[[Andermann syndrome]]
*[[Angelman syndrome]]
*[[Angelman syndrome ]]
*[[Angiokeratoma ]]
*[[Aniridia cerebellar ataxia mental deficiency ]]
*[[Aniridia iii ]]
*[[Aniridia ptosis ]]
*[[Anophthalmia ]]
*[[Ansell-bywaters-elderking syndrome ]]
*[[Aortic supravalvular stenosis ]]
*[[Apert syndrome]]
*[[Arachnodactyly ]]
*[[Arakawa syndrome 1]]
*[[Arena syndrome ]]
*[[Arginase deficiency]]
*[[Arginase deficiency ]]
*[[Arginine glycine amidinotransferase deficiency]]
*[[Arginine-glycine amidinotransferase deficiency ]]
*[[Argininosuccinase lyase deficiency]]
*[[Arginosuccinate synthetase deficiency]]
*[[Arginosuccinic aciduria]]
*[[Arima syndrome]]
*[[Arkless-graham syndrome]]
*[[Arnold-chiari malformation type 2 ]]
*[[Arnold-chiari malformation type 4 ]]
*[[Arthritis ]]
*[[Arthrogryposis]]
*[[Arthrogryposis ]]
*[[Aspartoacylase deficiency]]
*[[Aspartylglucosaminidase deficiency]]
*[[Aspartylglucosaminuria]]
*[[Aspartylglycosaminuria ]]
*[[Asphyxiating thoracic dystrophy ]]
*[[Ataxia tapetoretinal degeneration ]]
*[[Athabaskan brain stem dysgenesis]]
*[[Athabaskan brain stem dysgenesis ]]
*[[Atkin-flaitz-patil syndrome]]
*[[Atp6v0a2-related cutis laxa]]
*[[Atr16 ]]
*[[Atrichia ]]
*[[Atr-x syndrome ]]
*[[Atypical pyridoxine-dependent seizures ]]
*[[Aughton syndrome ]]
*[[Aural atresia ]]
*[[Auralcephalosyndactyly ]]
*[[Autism]]
*[[Axenfeld-rieger syndrome ]]
*[[Baller-gerold syndrome]]
*[[Bamforth syndrome ]]
*[[Bangstad syndrome ]]
*[[Baraitser burn fixen syndrome ]]
*[[Baraitser-rodeck-garner syndrome ]]
*[[Baraitser-winter syndrome]]
*[[Baraitser-winter syndrome ]]
*[[Bardet-biedl syndrome]]
*[[Bartsocas papa syndrome ]]
*[[Bartter syndrome]]
*[[Battaglia neri syndrome ]]
*[[Bbb syndrome, x-linked ]]
*[[Bd syndrome ]]
*[[Behr syndrome]]
*[[Bellini-chiumello-rinoldi syndrome ]]
*[[Ben-ari-shuper-mimouni syndrome ]]
*[[Benjamin syndrome ]]
*[[Bentham-driessen-hanveld syndrome ]]
*[[Berardinelli lipodystrophy syndrome]]
*[[Berlin breakage syndrome]]
*[[Bertini syndrome]]
*[[Beta-mannosidase deficiency]]
*[[Beta-mannosidosis]]
*[[Beta-ureidopropionase deficiency]]
*[[Beta-ureidopropionase deficiency ]]
*[[Beuren-williams syndrome]]
*[[Biemond syndrome type 2]]
*[[Bilateral frontoparietal polymicrogyria]]
*[[Bird-headed dwarfism]]
*[[Birth hypoxia]]
*[[Blepharonasofacial syndrome]]
*[[Blepharophimosis syndrome]]
*[[Bobble-head doll syndrome ]]
*[[Bod syndrome]]
*[[Bone dysplasia ]]
*[[Bonnemann-meinecke-reich syndrome ]]
*[[Borjeson-forssman-lehmann syndrome]]
*[[Bork-stender-schmidt syndrome ]]
*[[Boscherini-galasso-manca-bitti syndrome ]]
*[[Bosviel syndrome ]]
*[[Brachioskeletogenital syndrome ]]
*[[Brachycephaly ]]
*[[Brachydactyly]]
*[[Braddock jones superneau syndrome]]
*[[Brain trauma]]
*[[Branchio-oculo-facial syndrome ]]
*[[Branchio-skeleto-genital syndrome]]
*[[Bresheck syndrome]]
*[[Bruch-de lange syndrome]]
*[[Bullous dystrophy]]
*[[Buntinx-lormans-martin syndrome]]
*[[Buttiens-fryns syndrome]]
*[[C syndrome]]
*[[Cach syndrome ]]
*[[Cahmr syndrome ]]
*[[Camera-marugo-cohen syndrome]]
*[[Camfak syndrome]]
*[[Camptodactyly syndrome]]
*[[Canavan disease]]
*[[Cantu sanchez-corona fragoso syndrome ]]
*[[Cantu sanchez-corona garcia-cruz syndrome ]]
*[[Cantu syndrome ]]
*[[Carbamoyl-phosphate synthase 1 deficiency]]
*[[Carbamoylphosphate synthetase deficiency]]
*[[Carbohydrate deficient glycoprotein syndrome type 1a]]
*[[Carbon baby syndrome ]]
*[[Carbonic anhydrase type 2 deficiency]]
*[[Carbonic anhydrase va deficiency]]
*[[Cardiocranial syndrome ]]
*[[Cardiofaciocutaneous syndrome]]
*[[Cardiofaciocutaneous syndrome ]]
*[[Carnosinaemia]]
*[[Caseinolytic peptidase b deficiency]]
*[[Cat eye syndrome ]]
*[[Cataract deafness hypogonadism ]]
*[[Cataract dental syndrome ]]
*[[Caudal appendage ]]
*[[Cayler syndrome ]]
*[[Ccfdn ]]
*[[Cdg syndrome type 1a ]]
*[[Cephalic disorders]]
*[[Cerebellar ataxia ]]
*[[Cerebellar hypoplasia ]]
*[[Cerebellar vermis hypoplasia]]
*[[Cerebellum agenesis ]]
*[[Cerebral palsy]]
*[[Cerebro oculo genital syndrome]]
*[[Cerebro oculo skeleto renal syndrome ]]
*[[Cerebrocostomandibular syndrome]]
*[[Cerebro-facio-thoracic dysplasia]]
*[[Cerebro-oculo-nasal syndrome]]
*[[Cerebrorenodigital syndrome]]
*[[Cerebrotendinous xanthomatosus ]]
*[[Ceroid lipofuscinosis ]]
*[[Ceroid lipofuscinosis neuronal 2 late infantile]]
*[[Ceroid lipofuscinosis neuronal type 8]]
*[[Ceroid lipofuscinosis, neuronal 1, infantile]]
*[[Ceroid lipofuscinosis, neuronal 10]]
*[[Ceroid lipofuscinosis, neuronal 5]]
*[[Chanarin-dorfman disease]]
*[[Charcot-marie-tooth-hoffmann syndrome]]
*[[Charcot-marie-tooth-hoffmann syndrome, x-linked type 2]]
*[[Charge syndrome]]
*[[Chickenpox ]]
*[[Child abuse]]
*[[Childbirth injury]]
*[[Childhood disintegrative disorder]]
*[[Chitayat-moore-del bigio syndrome ]]
*[[Chitty hall baraitser syndrome ]]
*[[Chitty-hall-webb syndrome ]]
*[[Cholestanol storage disease]]
*[[Chondrodysplasia]]
*[[Chondrodysplasia punctata 1, x-linked recessive]]
*[[Chondrodysplasia punctata ]]
*[[Chorioretinopathy dominant form ]]
*[[Choroideremia]]
*[[Choroido cerebral calcification syndrome infantile form]]
*[[Christian syndrome 1]]
*[[Christian-demyer-franken syndrome ]]
*[[Christianson syndrome]]
*[[Chromosome 1, 1p36 deletion syndrome ]]
*[[Chromosome 1, deletion q21 q25 ]]
*[[Chromosome 1, monosomy 1p22 p13 ]]
*[[Chromosome 1, monosomy 1p31 p22 ]]
*[[Chromosome 1, monosomy 1p32 ]]
*[[Chromosome 1, monosomy 1p34 p32 ]]
*[[Chromosome 1, monosomy 1q25 q32]]
*[[Chromosome 1, monosomy 1q4 ]]
*[[Chromosome 1, proximal deletion ]]
*[[Chromosome 1, pter-p36 ]]
*[[Chromosome 1, trisomy 1q32 qter ]]
*[[Chromosome 1, trisomy 1q42 qter ]]
*[[Chromosome 1, uniparental disomy 1q12 q21 ]]
*[[Chromosome 10 ring syndrome ]]
*[[Chromosome 10, monosomy 10p ]]
*[[Chromosome 10p deletion syndrome ]]
*[[Chromosome 10q deletion syndrome]]
*[[Chromosome 11, deletion 11p ]]
*[[Chromosome 11, partial monosomy 11q ]]
*[[Chromosome 11, partial trisomy 11q ]]
*[[Chromosome 11p, partial deletion ]]
*[[Chromosome 11q duplication syndrome ]]
*[[Chromosome 11q partial deletion ]]
*[[Chromosome 12 ring syndrome ]]
*[[Chromosome 12 trisomy ]]
*[[Chromosome 12, isochromosome 12p mosaic]]
*[[Chromosome 12, trisomy 12q ]]
*[[Chromosome 12p deletion syndrome ]]
*[[Chromosome 12p deletion ]]
*[[Chromosome 12p partial deletion ]]
*[[Chromosome 12p tetrasomy syndrome]]
*[[Chromosome 12p tetrasomy syndrome ]]
*[[Chromosome 12q duplication syndrome ]]
*[[Chromosome 13 trisomy syndrome]]
*[[Chromosome 13, partial monosomy 13q ]]
*[[Chromosome 13p duplication ]]
*[[Chromosome 13q deletion syndrome]]
*[[Chromosome 13q deletion syndrome ]]
*[[Chromosome 13q duplication syndrome]]
*[[Chromosome 14 deletion - ]]
*[[Chromosome 14 ring syndrome]]
*[[Chromosome 14 ring -]]
*[[Chromosome 14 trisomy syndrome ]]
*[[Chromosome 14 uniparental disomy syndrome ]]
*[[Chromosome 14, trisomy mosaic ]]
*[[Chromosome 14q deletion syndrome ]]
*[[Chromosome 14q, proximal duplication ]]
*[[Chromosome 14q, terminal deletion ]]
*[[Chromosome 14q, terminal duplication ]]
*[[Chromosome 15 inverted duplication ]]
*[[Chromosome 15 ring ]]
*[[Chromosome 15 trisomy ]]
*[[Chromosome 15, distal trisomy 15q ]]
*[[Chromosome 15q deletion syndrome]]
*[[Chromosome 15q duplication syndrome ]]
*[[Chromosome 15q tetrasomy syndrome ]]
*[[Chromosome 15q triplication syndrome ]]
*[[Chromosome 15q, deletion ]]
*[[Chromosome 15q, partial deletion ]]
*[[Chromosome 15q, tetrasomy ]]
*[[Chromosome 15q, trisomy ]]
*[[Chromosome 15q13.3 microdeletion syndrome]]
*[[Chromosome 15q13.3 microdeletion syndrome ]]
*[[Chromosome 15q26-qter deletion syndrome ]]
*[[Chromosome 16p, partial duplication ]]
*[[Chromosome 16p11.2 duplication syndrome]]
*[[Chromosome 16q deletion syndrome]]
*[[Chromosome 16q, partial deletion]]
*[[Chromosome 17 deletion ]]
*[[Chromosome 17 ring ]]
*[[Chromosome 17 trisomy mosaicism ]]
*[[Chromosome 17 trisomy ]]
*[[Chromosome 17, deletion 17q23 q24 ]]
*[[Chromosome 17, trisomy 17p11.2 ]]
*[[Chromosome 17p, partial deletion ]]
*[[Chromosome 17p, partial duplication ]]
*[[Chromosome 17q duplication syndrome]]
*[[Chromosome 17q, partial duplication ]]
*[[Chromosome 17q12 duplication syndrome]]
*[[Chromosome 17q21.31 deletion syndrome]]
*[[Chromosome 18 deletion syndrome ]]
*[[Chromosome 18 ring ]]
*[[Chromosome 18 trisomy syndrome]]
*[[Chromosome 18, deletion 18q23 ]]
*[[Chromosome 18, monosomy 18p ]]
*[[Chromosome 18, tetrasomy 18p ]]
*[[Chromosome 18, trisomy 18q ]]
*[[Chromosome 18p deletion syndrome]]
*[[Chromosome 18p minus syndrome ]]
*[[Chromosome 18p tetrasomy syndrome]]
*[[Chromosome 18q deletion syndrome]]
*[[Chromosome 18q syndrome ]]
*[[Chromosome 18q, partial deletion]]
*[[Chromosome 19 ring syndrome]]
*[[Chromosome 19q, partial duplication ]]
*[[Chromosome 19q13.11 deletion syndrome ]]
*[[Chromosome 1p deletion syndrome ]]
*[[Chromosome 1p duplication syndrome ]]
*[[Chromosome 1p36 deletion syndrome]]
*[[Chromosome 1q deletion]]
*[[Chromosome 1q duplication syndrome ]]
*[[Chromosome 1q21.1 deletion syndrome ]]
*[[Chromosome 2 trisomy syndrome ]]
*[[Chromosome 2, monosomy 2p22 ]]
*[[Chromosome 2, monosomy 2pter p24 ]]
*[[Chromosome 2, monosomy 2q ]]
*[[Chromosome 2, monosomy 2q24]]
*[[Chromosome 2, monosomy 2q37 ]]
*[[Chromosome 2, trisomy 2p ]]
*[[Chromosome 2, trisomy 2q ]]
*[[Chromosome 20 ring syndrome]]
*[[Chromosome 20 ring ]]
*[[Chromosome 20p deletion syndrome ]]
*[[Chromosome 21 monosomy ]]
*[[Chromosome 21 ring syndrome]]
*[[Chromosome 21, tetrasomy 21q ]]
*[[Chromosome 21q deletion syndrome ]]
*[[Chromosome 21q, partial deletion ]]
*[[Chromosome 22 monosomy syndrome ]]
*[[Chromosome 22 ring syndrome]]
*[[Chromosome 22 suprenumerary marker ]]
*[[Chromosome 22 trisomy mosaic]]
*[[Chromosome 22q deletion syndrome ]]
*[[Chromosome 22q duplication syndrome ]]
*[[Chromosome 22q13.3 deletion syndrome]]
*[[Chromosome 2p deletion syndrome ]]
*[[Chromosome 2p duplication syndrome ]]
*[[Chromosome 2p16.1-p15 deletion syndrome ]]
*[[Chromosome 2q duplication syndrome ]]
*[[Chromosome 2q23.1 deletion syndrome]]
*[[Chromosome 2q37 deletion syndrome]]
*[[Chromosome 3, monosomy 3p25 ]]
*[[Chromosome 3, trisomy 3p ]]
*[[Chromosome 3, trisomy 3q13 2 q25 ]]
*[[Chromosome 3, trisomy 3q2 ]]
*[[Chromosome 3p deletion syndrome]]
*[[Chromosome 3q29 microduplication syndrome]]
*[[Chromosome 4 ring syndrome]]
*[[Chromosome 4 short arm deletion ]]
*[[Chromosome 4, monosomy 4p14 p16]]
*[[Chromosome 4, monosomy 4q ]]
*[[Chromosome 4, monosomy distal 4q ]]
*[[Chromosome 4, partial trisomy distal 4q ]]
*[[Chromosome 4, trisomy 4q ]]
*[[Chromosome 4p deletion syndrome ]]
*[[Chromosome 4q duplication syndrome]]
*[[Chromosome 5, trisomy 5p ]]
*[[Chromosome 5, trisomy 5pter p13 3 ]]
*[[Chromosome 5, trisomy 5q ]]
*[[Chromosome 5p duplication syndrome ]]
*[[Chromosome 5p tetrasomy syndrome]]
*[[Chromosome 5q deletion syndrome]]
*[[Chromosome 5q duplication syndrome ]]
*[[Chromosome 6 ring syndrome]]
*[[Chromosome 6 ring syndrome ]]
*[[Chromosome 6 ring ]]
*[[Chromosome 6, monosomy 6p23]]
*[[Chromosome 6, monosomy 6q ]]
*[[Chromosome 6, monosomy 6q1 ]]
*[[Chromosome 6, partial trisomy 6q ]]
*[[Chromosome 6, trisomy 6p ]]
*[[Chromosome 6, trisomy 6q]]
*[[Chromosome 6p deletion syndrome ]]
*[[Chromosome 6q deletion syndrome ]]
*[[Chromosome 6q duplication syndrome ]]
*[[Chromosome 7 ring syndrome ]]
*[[Chromosome 7, monosomy 7q21 ]]
*[[Chromosome 7, monosomy 7q3 ]]
*[[Chromosome 7, partial deletion of short arm ]]
*[[Chromosome 7, partial monosomy 7p ]]
*[[Chromosome 7, trisomy 7p ]]
*[[Chromosome 7, trisomy 7p13 p12 2 ]]
*[[Chromosome 7, trisomy 7q ]]
*[[Chromosome 7p deletion syndrome ]]
*[[Chromosome 7p duplication syndrome]]
*[[Chromosome 7q deletion syndrome]]
*[[Chromosome 7q duplication syndrome ]]
*[[Chromosome 8 deletion ]]
*[[Chromosome 8 recombinant syndrome]]
*[[Chromosome 8 recombinant syndrome ]]
*[[Chromosome 8 ring ]]
*[[Chromosome 8 trisomy syndrome]]
*[[Chromosome 8 trisomy syndrome ]]
*[[Chromosome 8, monosomy 8p ]]
*[[Chromosome 8, monosomy 8p2 ]]
*[[Chromosome 8, monosomy 8q ]]
*[[Chromosome 8, mosaic trisomy ]]
*[[Chromosome 8, partial trisomy ]]
*[[Chromosome 8, trisomy]]
*[[Chromosome 8, trisomy 8p ]]
*[[Chromosome 8, trisomy 8q ]]
*[[Chromosome 8p deletion syndrome]]
*[[Chromosome 8p duplication syndrome ]]
*[[Chromosome 8p inverted duplication syndrome ]]
*[[Chromosome 8p mosaic tetrasomy ]]
*[[Chromosome 8q deletion syndrome ]]
*[[Chromosome 8q duplication syndrome ]]
*[[Chromosome 9 ring syndrome]]
*[[Chromosome 9 trisomy syndrome]]
*[[Chromosome 9, monosomy 9p ]]
*[[Chromosome 9, partial monosomy 9p ]]
*[[Chromosome 9, partial trisomy 9p ]]
*[[Chromosome 9, tetrasomy 9p ]]
*[[Chromosome 9, trisomy]]
*[[Chromosome 9, trisomy 9p]]
*[[Chromosome 9, trisomy 9p ]]
*[[Chromosome 9, trisomy 9q ]]
*[[Chromosome 9, trisomy 9q32 ]]
*[[Chromosome 9p deletion syndrome]]
*[[Chromosome 9p duplication syndrome]]
*[[Chromosome 9p tetrasomy syndrome]]
*[[Chromosome 9q deletion syndrome]]
*[[Chromosome 9q deletion syndrome ]]
*[[Chromosome 9q duplication ]]
*[[Chromosome diploid-triploid mosaicism syndrome]]
*[[Chromosome disorders]]
*[[Chromosome xp11.23-p11.22 duplication syndrome ]]
*[[Chronic alcoholism ]]
*[[Chylomicron retention disease]]
*[[Chylomicron retention disease with marinesco-sjogren syndrome ]]
*[[Cinca syndrome]]
*[[Ck syndrome]]
*[[Clark-baraitser syndrome ]]
*[[Classic galactosemia ]]
*[[Classical pyridoxine-dependent seizures ]]
*[[C-like syndrome]]
*[[Coach syndrome]]
*[[Coach syndrome - mental retardation]]
*[[Cockayne syndrome]]
*[[Codas syndrome]]
*[[Coenzyme q10 deficiency]]
*[[Coffin syndrome 1]]
*[[Coffin-lowry syndrome]]
*[[Coffin-lowry syndrome ]]
*[[Coffin-siris syndrome]]
*[[Cohen syndrome]]
*[[Cohen-hayden syndrome ]]
*[[Coleman randall syndrome ]]
*[[Collins-sakati syndrome ]]
*[[Coloboma chorioretinal cerebellar vermis aplasia ]]
*[[Colobomatous microphthalmia ]]
*[[Colpocephaly ]]
*[[Complete trisomy 18 syndrome]]
*[[Congenital bilateral perisylvian syndrome ]]
*[[Congenital disorder of glycosylation type 1a]]
*[[Congenital disorder of glycosylation type 1c]]
*[[Congenital disorder of glycosylation type 1k]]
*[[Congenital disorder of glycosylation type 2a]]
*[[Congenital disorder of glycosylation type x ]]
*[[Congenital disorders of glycosylation ]]
*[[Congenital generalized lipodystrophy type 2]]
*[[Congenital heart disease ]]
*[[Congenital hypoparathyroidism]]
*[[Congenital hypothyroidism]]
*[[Congenital muscular dystrophy]]
*[[Congenital muscular dystrophy, autosomal recessive]]
*[[Congenital myotonic dystrophy]]
*[[Congenital toxoplasmosis]]
*[[Copper poisoning]]
*[[Corneal anesthesia deafness intellectual deficit ]]
*[[Corneal anesthesia deafness mental retardation]]
*[[Corneal cerebellar syndrome ]]
*[[Corneal hypesthesia deafness intellectual deficit ]]
*[[Cornelia de lange syndrome]]
*[[Cornelia de lange syndrome ]]
*[[Corpus callosum agenesis ]]
*[[Corpus callosum dysgenesis x-linked recessive ]]
*[[Corpus callosum hypoplasia]]
*[[Cortada koussef matsumoto syndrome ]]
*[[Cortada-kousseff-matsumoto syndrome ]]
*[[Cortical dysplasia ]]
*[[Costello syndrome]]
*[[Cote-katsantoni syndrome]]
*[[Cowden's syndrome ]]
*[[Craniodiaphyseal dysplasia ]]
*[[Craniodigital syndrome ]]
*[[Craniofacial dysmorphism-polysyndactyly syndrome]]
*[[Craniofacial dysostosis -]]
*[[Craniofacial dyssynostosis ]]
*[[Craniofaciocardioskeletal syndrome ]]
*[[Craniosynostosis ]]
*[[Craniotelencephalic dysplasia]]
*[[Creatine deficiency syndrome, x-linked]]
*[[Creatine deficiency, x-linked ]]
*[[Cretinism athyreotic]]
*[[Cri du chat syndrome 5p-]]
*[[Cri-du-chat syndrome]]
*[[Crome syndrome]]
*[[Crome syndrome ]]
*[[Cross-mckusick-breen syndrome]]
*[[Croup]]
*[[Cryptorchidism ]]
*[[Cumming syndrome]]
*[[Cutis laxa with bone dystrophy ]]
*[[Cutis laxa with growth and developmental delay ]]
*[[Cutis laxa with or without congenital disorder of glycosylation ]]
*[[Cutis laxa, autosomal recessive, type iia ]]
*[[Cutis laxa, debre type ]]
*[[Cutis laxa, recessive type 2 ]]
*[[Cutis verticis gyrata mental deficiency ]]
*[[Cystathionine beta-synthase deficiency]]
*[[Cystic fibrosis ]]
*[[Cytochrome c oxydase deficiency]]
*[[Cytomegalovirus]]
*[[D ercole syndrome]]
*[[D-2-hydroxyglutarate dehydrogenase deficiency]]
*[[Dandy-walker malformation]]
*[[Davis syndrome ]]
*[[Davis-lafer syndrome]]
*[[De barsy syndrome]]
*[[De grouchy syndrome]]
*[[De lange syndrome]]
*[[Deal-barratt-dillon syndrome ]]
*[[Decreased mental acuity ]]
*[[Del (1) (pter-p36.3) mosaicism ]]
*[[Del (2) (p13-p11.2) ]]
*[[Del (2) (p23-p21.3) ]]
*[[Del (2) (p25.1-p23.3)]]
*[[Del (2) (p25.1-p24.2) ]]
*[[Del (2) (pter-p24) and dup (18) (q21-qter) ]]
*[[Del (2) (pter-p24) ]]
*[[Del (2) (q12-q14) ]]
*[[Del (2) (q13-q21)]]
*[[Del (2) (q14-q21) ]]
*[[Del (2) (q22.3-q23.3) ]]
*[[Del (2) (q22-q23) ]]
*[[Del (2) (q23-q34) mosaicism ]]
*[[Del (2) (q24.3-q31) ]]
*[[Del (2) (q24-q31) ]]
*[[Del (2) (q32.1-q34) ]]
*[[Del (2) (q32.2-q33.1)]]
*[[Del (2) (q32-q33)]]
*[[Del (2) (q33.1-q33.3) ]]
*[[Del (2) (q33-q36)]]
*[[Del (2) (q33-qter) ]]
*[[Del (2) (q34-q36) ]]
*[[Del (2) (q35-q36.2) ]]
*[[Del (2) (q37.1-qter) ]]
*[[Del (2) (q37.3-qter) and dup (11) (q23.3-qter) ]]
*[[Del (2) (q37.3-qter) and dup (8) (q24.3-qter)) ]]
*[[Del (2) (q37-qter) and dup (10) (pter-p13) ]]
*[[Del (3) (p14.2-p11) ]]
*[[Del (3) (p21.1-p13) ]]
*[[Del (3) (p24.12-p23) ]]
*[[Del (3) (pter-25.3) ]]
*[[Del (3) (pter-p25) and dup (20) (q13-qter) ]]
*[[Del (3) (pter-p25) and dup (4) (pter-p16.1) ]]
*[[Del (3) (q11-q21) ]]
*[[Del (3) (q12-q21) ]]
*[[Del (3) (q12-q23) ]]
*[[Del (3) (q22.2-q23) ]]
*[[Del (3) (q29-qter) ]]
*[[Del (3q21) and del (13q22.2) ]]
*[[Del (4) (pter-p16 or p16.1) ]]
*[[Del (4) (pter-p16) and dup (8) (pter-p23) ]]
*[[Del (4) (pter-p16.2) and dup (2) (q37.1-qter) ]]
*[[Del (4) (pter-p16.3) and dup (8) (pter-p23.1) ]]
*[[Del (4) (pter-p16.3) ]]
*[[Del(1) (p22.3-p13.3) ]]
*[[Del(1) (pter-p34) ]]
*[[Del(1) (pter-p35) ]]
*[[Del(1) (pter-p36.2) ]]
*[[Del(1) (q25-q32) ]]
*[[Del(1) (q32-q41) ]]
*[[Del(1) (q41-q43) ]]
*[[Del(1) (q42-qter)]]
*[[Del(1) (q44-qter) ]]
*[[Del(1q32) ]]
*[[Deletion 10q ]]
*[[Deletion 11p ]]
*[[Deletion 11q ]]
*[[Deletion 12p13 ]]
*[[Deletion 13q ]]
*[[Deletion 13q32 ]]
*[[Deletion 18q ]]
*[[Deletion 20p]]
*[[Deletion 2q ]]
*[[Deletion 2q24 ]]
*[[Deletion 4p ]]
*[[Deletion 5p ]]
*[[Deletion 6q ]]
*[[Deletion 6q16 q21 ]]
*[[Deletion 8p ]]
*[[Deletion 8q ]]
*[[Deletion of the short arm of chromosome 1 ]]
*[[Deletions of chromosome 8 ]]
*[[Delta-1-pyrroline 5-carboxylate synthetase deficiency]]
*[[Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency]]
*[[Dennis cohen syndrome ]]
*[[Dentatorubral pallidoluysian atrophy ]]
*[[Dentinogenesis imperfecta ]]
*[[Denys-corbeel syndrome ]]
*[[Dermatoleukodystrophy ]]
*[[Desbuquois syndrome]]
*[[Desmosterolosis]]
*[[Developmental delay ]]
*[[D-glycerate kinase deficiency]]
*[[D-glycericacidemia ]]
*[[Diabetes insipidus]]
*[[Diaphragmatic hernia ]]
*[[Dibasic aminoaciduria type 1]]
*[[Dibasic aminoaciduria type 2]]
*[[Didmoad syndrome]]
*[[Diffuse sclerosis of schilder]]
*[[Digeorge syndrome ]]
*[[Digitorenocerebral syndrome ]]
*[[Dihydrolipoamide dehydrogenase deficiency]]
*[[Dihydropteridine reductase deficiency]]
*[[Dihydropyrimidine dehydrogenase deficiency]]
*[[Diomedi-bernardi-placidi syndrome ]]
*[[Diphenyl-hydantoin ]]
*[[Distal trisomy 11q ]]
*[[Distal trisomy 6q ]]
*[[Dobrow syndrome ]]
*[[Donohue syndrome]]
*[[Dopa decarboxylase deficiency]]
*[[Dopamine transporter deficiency syndrome]]
*[[Double cortex syndrome]]
*[[Dowling-degos disease ]]
*[[Down syndrome]]
*[[Down syndrome ]]
*[[Duane anomaly ]]
*[[Dubowitz syndrome]]
*[[Dup (1) (q42-qter) & del (18p) ]]
*[[Dup (1) (q44-qter) ]]
*[[Dup (2) (p11-q14) ]]
*[[Dup (2) (p21-p12) ]]
*[[Dup (2) (p21-p13) ]]
*[[Dup (2) (p22-p21) ]]
*[[Dup (2) (p25.2-p23) ]]
*[[Dup (2) (pter-p22.3) ]]
*[[Dup (2) (pter-p23)]]
*[[Dup (2) (q11.2-q13) ]]
*[[Dup (2) (q11.2-q14.2) ]]
*[[Dup (2) (q11.2-q21) ]]
*[[Dup (2) (q11.2-q21.1)]]
*[[Dup (2) (q32.1-q35) ]]
*[[Dup (2) (q32.3-qter) ]]
*[[Dup (2) (q32-qter) ]]
*[[Dup (2) (q33.1-q35) ]]
*[[Dup (2) (q33.3-qter), mosaicism with del (2) (pter-p25.3)]]
*[[Dup (2) (q33-qter) and del (9) (pter-p24) ]]
*[[Dup (2) (q33-qter) and dup (21) (pter-q21) ]]
*[[Dup (2) (q33-qter) ]]
*[[Dup (2) (q34-qter) ]]
*[[Dup (3) (p14-p11)]]
*[[Dup (3) (p22-p14) ]]
*[[Dup (3) (p24-p21) and del (3) (p14-p13) ]]
*[[Dup (3) (p25-p21.3) ]]
*[[Dup (3) (pter-p22) and del (x) (pter-p22)]]
*[[Dup (3) (pter-p24.3) and del (7) (pter-p22.1) ]]
*[[Dup (3) (pter-p25)]]
*[[Dup (3) (pter-p25.1) and del (12) (pter-p13.3) ]]
*[[Dup (3) (q21-qter) ]]
*[[Dup (3) (q22-q27) ]]
*[[Dup (3) (q23-q27) ]]
*[[Dup (3) (q25-q26.2) ]]
*[[Dup (3) (q25-q27)]]
*[[Dup (3) (q25-qter) ]]
*[[Dup (3) (q26.2-qter) and del (18p) ]]
*[[Dup (3) (q29-qter) and del (6) (q26-qter) ]]
*[[Dup(1) (p22.1-p13.3) ]]
*[[Dup(1) (p31.4-p22.1)]]
*[[Dup(1) (p31-p21)]]
*[[Dup(1) (q11-q25) mosaicism ]]
*[[Dup(1) (q24-q41)]]
*[[Dup(1) (q25-q32) ]]
*[[Dup(1p36.3) ]]
*[[Duplication 10q partial]]
*[[Duplication 12q]]
*[[Duplication 13 ]]
*[[Duplication 18 ]]
*[[Duplication 2p]]
*[[Duplication 2q ]]
*[[Duplication 5p ]]
*[[Duplication 5q]]
*[[Duplication 6p ]]
*[[Duplication 6q ]]
*[[Duplication 6q, partial ]]
*[[Duplication 7p ]]
*[[Duplication 7q]]
*[[Duplication 8p ]]
*[[Duplication 8q ]]
*[[Duplication 9p partial ]]
*[[Dwarfism-cerebral atrophy-keratosis follicularis syndrome]]
*[[Dyggve-melchior-clausen dysplasia]]
*[[Dyke-davidoff-masson syndrome]]
*[[Dysautonomia like disorder]]
*[[Dysequilibrium syndrome ]]
*[[Dysharmonic skeletal maturation ]]
*[[Dyskeratosis congenita of zinsser-cole-engman ]]
*[[Dysmorphism]]
*[[Dysosteosclerosis]]
*[[East syndrome ]]
*[[Ectodermal dysplasia]]
*[[Ectodermal dysplasia ]]
*[[Ectomorphic habitus ]]
*[[Ectopia lentis, isolated ]]
*[[Edinburgh malformation syndrome ]]
*[[Edwards syndrome ]]
*[[Eec syndrome ]]
*[[Ehlers-danlos syndrome ]]
*[[Elejalde syndrome ]]
*[[Emanuel syndrome]]
*[[Emerinopathy]]
*[[Emery-dreifuss muscular dystrophy, x-linked]]
*[[Emery-dreifuss muscular dystrophy, x-linked ]]
*[[Emery-nelson syndrome ]]
*[[Encephalo cranio cutaneous lipomatosis ]]
*[[Encephaloceles ]]
*[[Encephalopathy ]]
*[[Endomyocardial fibroelastosis ]]
*[[Engelhard-yatziv syndrome]]
*[[Epidermal naevus syndrome]]
*[[Epidermal nevus ]]
*[[Epidermolysis bullosa]]
*[[Epilepsy ]]
*[[Epileptic encephalopathy]]
*[[Epiphyseal dysplasia dysmorphism camptodactyly ]]
*[[Ethylmalonic encephalopathy]]
*[[Euhidrotic ectodermal dysplasia ]]
*[[Faciocardiorenal syndrome]]
*[[Fahr's syndrome ]]
*[[Familial band heterotopia ]]
*[[Familial histiocytic reticulosis]]
*[[Familial hypertryptophanemia ]]
*[[Familial porencephaly]]
*[[Fanconi anaemia]]
*[[Fanconi syndrome ]]
*[[Fanconi-bickel syndrome]]
*[[Fanconi-ichthyosis-dysmorphism ]]
*[[Fanconi-turler syndrome ]]
*[[Fara-chlupackova syndrome ]]
*[[Farber lipogranulomatosis]]
*[[Farber's disease ]]
*[[Feingold syndrome]]
*[[Fenton-wilkinson-toselano syndrome ]]
*[[Fetal alcohol syndrome]]
*[[Fetal alcohol syndrome ]]
*[[Fetal aminopterin-like syndrome]]
*[[Fetal brain disruption sequence ]]
*[[Fetal hypoxia]]
*[[Fetal trimethadione syndrome]]
*[[Fetal warfarin syndrome]]
*[[Fibromatosis gingival ]]
*[[Filippi syndrome]]
*[[Filippi syndrome ]]
*[[Fine-lubinsky syndrome]]
*[[Fine-lubinsky syndrome ]]
*[[Fitzsimmons syndrome]]
*[[Fitzsimmons-mclachlan-gilbert syndrome]]
*[[Floating-harbor syndrome]]
*[[Focal cortical dysplasia type ii ]]
*[[Focal cortical dysplasia type iia]]
*[[Focal dermal hypoplasia]]
*[[Folate malabsorption]]
*[[Forceps]]
*[[Fountain syndrome ]]
*[[Four x syndrome]]
*[[Foxg1 syndrome]]
*[[Fragile x syndrome]]
*[[Fragile x syndrome ]]
*[[Franceschini-vardeu-guala syndrome ]]
*[[Franek-bocker-kahlen syndrome]]
*[[Frank-ter haar syndrome]]
*[[Fraxd ]]
*[[Free sialic acid storage disease ]]
*[[Freire-maia odontotrichomelic syndrome ]]
*[[Freire-maia syndrome]]
*[[Fried syndrome ]]
*[[Froelich's syndrome ]]
*[[Frontometaphyseal dysplasia]]
*[[Fryns macrocephaly ]]
*[[Fryns syndrome ]]
*[[Fryns-aftimos syndrome ]]
*[[Fryns-smeets-thiry syndrome ]]
*[[Fryns-van den berghe syndrome]]
*[[Fucosidosis]]
*[[Fukuyama congenital muscular dystrophy]]
*[[Fumarase deficiency]]
*[[Fumarate hydratase deficiency]]
*[[Galactose epimerase deficiency]]
*[[Galactose-1-phosphate uridyltransferase deficiency]]
*[[Galactosemia]]
*[[Galactosialidosis]]
*[[Galloway syndrome ]]
*[[Galloway-mowat syndrome]]
*[[Gamma-aminobutyrate transaminase deficiency]]
*[[Gangliosidosis]]
*[[Gangliosidosis gm1, type 3]]
*[[Gangliosidosis gm3]]
*[[Gangliosidosis, generalized gm1 type 3 ]]
*[[Gardner-morrisson-abbot syndrome ]]
*[[Gareis-mason syndrome]]
*[[Garret-tripp syndrome ]]
*[[Gaucher disease]]
*[[Gaucher's disease]]
*[[Generalized gangliosidosis gm1]]
*[[Generalized lipodystrophy]]
*[[Genetic birth defects]]
*[[Genital anomaly ]]
*[[Genitopatellar syndrome]]
*[[Gerhardt syndrome]]
*[[Giacomini disease ]]
*[[Giant axonal neuropathy]]
*[[Gillespie syndrome]]
*[[Global developmental delay ]]
*[[Glomerulonephritis ]]
*[[Glucose phosphate isomerase deficiency]]
*[[Glucose transport defect, blood-brain barrier ]]
*[[Glucose transporter type 1 deficiency]]
*[[Glut-1 deficiency syndrome ]]
*[[Glutamate decarboxylase deficiency ]]
*[[Glutamate formiminotransferase deficiency]]
*[[Glutaric aciduria type 1]]
*[[Glutathione synthase deficiency]]
*[[Glycerol kinase deficiency]]
*[[Glycine decarboxylase deficiency]]
*[[Glycine encephalopathy]]
*[[Glycogen storage disease iib ]]
*[[Glycogenosis type 2]]
*[[Glycogenosis type 2b]]
*[[Gm1 gangliosidosis, type 2]]
*[[Gm2 gangliosidosis type ab]]
*[[Gm3 synthase deficiency]]
*[[Gms syndrome ]]
*[[Golabi-ito-hall syndrome]]
*[[Goldberg syndrome ]]
*[[Goldblatt-wallis syndrome ]]
*[[Gombo syndrome]]
*[[Gonadal dysgenesis xy type associated anomalies]]
*[[Greig cephalopolysyndactyly syndrome]]
*[[Griscelli syndrome type 1]]
*[[Grix-blankenship-peterson syndrome ]]
*[[Grubben syndrome]]
*[[Gsd iib ]]
*[[Guanidinoacetate methyltransferase deficiency]]
*[[Gurrieri-sammito-bellussi syndrome ]]
*[[Gustavson syndrome ]]
*[[Haas-robinson syndrome ]]
*[[Hair defect photosensitivity mental retardation ]]
*[[Hair defect with photosensitivity and mental retardation ]]
*[[Hair-brain syndrome]]
*[[Halal setton wang syndrome ]]
*[[Halal syndrome ]]
*[[Hallermann-streiff syndrome]]
*[[Hallervorden-spatz syndrome ]]
*[[Hanhart syndrome type iv ]]
*[[Hard syndrome ]]
*[[Harrod doman keele syndrome ]]
*[[Hartnup disease]]
*[[Hartnup's disease]]
*[[Hartsfield syndrome]]
*[[Haspeslagh fryns muelenaere syndrome ]]
*[[Havlikova syndrome ]]
*[[Hemi 3 syndrome ]]
*[[Hemimegalencephaly]]
*[[Hemiplegic migraine, familial type 2 ]]
*[[Hennekam syndrome]]
*[[Hereditary methemoglobinemia]]
*[[Hereditary nodular heterotopia ]]
*[[Hereditary orotic aciduria]]
*[[Hereditary sensory and autonomic neuropathy 3]]
*[[Hereditary sensory and autonomic neuropathy 4]]
*[[Hereditary sensory and autonomic neuropathy type 4]]
*[[Herpes]]
*[[Herrmann-opitz craniosynostosi ]]
*[[Hersh-podruch-weisskopk syndrome ]]
*[[Hidrotic ectodermal dysplasia]]
*[[Hischsprung disease-microcephaly-mental retardation syndrome]]
*[[Histidinaemia]]
*[[Histidinemia ]]
*[[Histidinuria]]
*[[Holoprosencephaly]]
*[[Homocarnosinase deficiency]]
*[[Homocarnosinosis ]]
*[[Homocystinuria due to cystathionine beta-synthase deficiency]]
*[[Homocystinuria due to defect in methylation (cbl g) ]]
*[[Homocystinuria due to defect in methylation cbl e ]]
*[[Homocystinuria ]]
*[[Hooft disease ]]
*[[Hordnes-engebretsen-knudtson syndrome ]]
*[[Hornova-dlurosova syndrome ]]
*[[Howard-young syndrome ]]
*[[Hoyeraal-hreidarsson syndrome]]
*[[Hoyeraal-hreidarsson syndrome ]]
*[[Hunter-carpenter-macdonald syndrome ]]
*[[Hunter-fraser syndrome ]]
*[[Hunter-macpherson syndrome ]]
*[[Hunter-mcalpine syndrome ]]
*[[Huntington disease-like 3]]
*[[Hurler syndrome]]
*[[Hyde-forster-mccarthy-berry syndrome]]
*[[Hydranencephaly ]]
*[[Hydrocephalus]]
*[[Hydroxykynureninuria ]]
*[[Hyperammonemia ]]
*[[Hyperimidodipeptiduria ]]
*[[Hypermethioninemia ]]
*[[Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome]]
*[[Hyperprolinemia type 2 ]]
*[[Hypertelorism ]]
*[[Hypertrichosis brachydactyly ]]
*[[Hypertrichotic osteochondrodysplasia ]]
*[[Hypertryptophanemia ]]
*[[Hypobetalipoproteinaemia ]]
*[[Hypochondroplasia]]
*[[Hypogonadism ]]
*[[Hypomandibular faciocranial dysostosis ]]
*[[Hypomelanosis of ito ]]
*[[Hypomyelination and congenital cataract]]
*[[Hypomyelination and congenital cataract ]]
*[[Hypomyelination congenital cataract ]]
*[[Hypoparathyroidism]]
*[[Hypospadias ]]
*[[Hypothyroidism]]
*[[Ibids syndrome]]
*[[I-cell disease]]
*[[Icf syndrome ]]
*[[Ichthyosis ]]
*[[Idaho syndrome ]]
*[[Idiopathic basal ganglia calcification, childhood onset ]]
*[[Iduronate sulphatase deficiency]]
*[[Iduronate-2-sulfatase deficiency]]
*[[Illum syndrome ]]
*[[Iminodipeptiduria]]
*[[Immunodeficiency with short limb dwarfism ]]
*[[Inborn amino acid metabolism disorder ]]
*[[Inborn urea cycle disorder ]]
*[[Incontinentia pigmenti]]
*[[Infant cytomegalic virus ]]
*[[Infantile axonal neuropathy ]]
*[[Infantile multisystem inflammatory disease ]]
*[[Infantile neuroaxonal dystrophy]]
*[[Infantile spasms]]
*[[Infections contracted at birth]]
*[[Insensitivity to pain with anhydrosis ]]
*[[Institutionalization ]]
*[[Intrauterine infections ]]
*[[Intraventricular haemorrhage]]
*[[Iodine deficiency]]
*[[Iris coloboma]]
*[[Ischiadic hypoplasia ]]
*[[Jackson-weiss syndrome]]
*[[Jacobsen syndrome]]
*[[Jacobsen syndrome ]]
*[[Jaffe-campanacci syndrome]]
*[[Jaffer-beighton syndrome ]]
*[[Jeune syndrome ]]
*[[Johanson-blizzard syndrome]]
*[[Jorgenson-lenz syndrome ]]
*[[Joubert syndrome]]
*[[Joubert syndrome ]]
*[[Juberg-hayward syndrome ]]
*[[Juberg-hellman syndrome]]
*[[Jung-wolff-back-stahl syndrome ]]
*[[Kabuki make-up syndrome]]
*[[Kahrizi syndrome ]]
*[[Kalam-hafeez syndrome ]]
*[[Kaler-garrity-stern syndrome ]]
*[[Karandikar-maria-kamble syndrome ]]
*[[Katsantoni-papadakou-lagoyanni syndrome ]]
*[[Kaufman oculocerebrofacial syndrome]]
*[[Kbg syndrome]]
*[[Kbg syndrome ]]
*[[Kcnj11-related permanent neonatal diabetes mellitus]]
*[[Kennerknecht syndrome ]]
*[[Kennerknecht-sorgo-oberhoffer syndrome ]]
*[[Kennerknecht-vogel syndrome ]]
*[[Keratosis palmoplantaris ]]
*[[Keutel syndrome 2 ]]
*[[Kifafa seizure disorder ]]
*[[Kjellin syndrome]]
*[[Kleeblattschaedel syndrome ]]
*[[Klinefelter syndrome]]
*[[Klinefelter variant]]
*[[Kohlschutter syndrome]]
*[[Koone-rizzo-elias syndrome ]]
*[[Kosztolanyi syndrome ]]
*[[Kotzot-richter syndrome ]]
*[[Kramer-pollnow disease ]]
*[[Krause syndrome ]]
*[[Krause-kivlin syndrome ]]
*[[Krause-van schooneveld-kivlin syndrome]]
*[[Kurczynski-casperson syndrome ]]
*[[L1 syndrome ]]
*[[L-2-hydroxyglutarate dehydrogenase deficiency]]
*[[Lactic acidosis congenital infantile ]]
*[[Lactic acidosis, fatal infantile ]]
*[[Lama2-related muscular dystrophy]]
*[[Langer-giedion syndrome]]
*[[Lathosterolosis]]
*[[Laurence-moon syndrome]]
*[[Laurence-moon syndrome ]]
*[[Lead poisoning]]
*[[Learning disorders]]
*[[Legius syndrome]]
*[[Leigh syndrome ]]
*[[Lennox-gastaut syndrome]]
*[[Lenz microphthalmia syndrome]]
*[[Lenz microphthalmia syndrome ]]
*[[Lenz-majewski hyperostosis syndrome]]
*[[Leprechaunism ]]
*[[Leschke-ullmann syndrome ]]
*[[Lesch-nyhan syndrome]]
*[[Lesch-nyhan syndrome ]]
*[[Leucinosis ]]
*[[Leucocyte adhesion deficiency type 2]]
*[[Leukomalacia ]]
*[[Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis - mental retardation]]
*[[Leukotriene c4 synthase deficiency]]
*[[Levic-stefanovic-nikolic syndrome ]]
*[[Limb deficiencies distal micrognathia ]]
*[[Lindsay-burn syndrome ]]
*[[Lindstrom syndrome ]]
*[[Lipidosis with triglyceride storage disease ]]
*[[Lipoamide dehydrogenase deficiency]]
*[[Lipoid proteinosis of urbach and wiethe]]
*[[Lissencephaly ]]
*[[Loeys-dietz syndrome]]
*[[Loeys-dietz syndrome ]]
*[[Lopes-marques de faria syndrome]]
*[[Lowe oculocerebrorenal syndrome ]]
*[[Lowe syndrome]]
*[[Lowry-maclean syndrome]]
*[[Lowry-maclean syndrome ]]
*[[Lowry-wood syndrome]]
*[[Lujan-fryns syndrome]]
*[[Lujan-fryns syndrome ]]
*[[Lundberg ii syndrome ]]
*[[Lymphangiectasies]]
*[[Lymphoedema]]
*[[Lysine alpha-ketoglutarate reductase deficiency]]
*[[Lysosomal glycogen storage disease with normal acid maltase activity]]
*[[Macdermot-winter syndrome ]]
*[[Macrocephaly ]]
*[[Macrogyria]]
*[[Malformations in neuronal migration]]
*[[Malnutrition]]
*[[Malonyl-coa decarboxylase deficiency]]
*[[Mannosidosis, alpha b lysosomal ]]
*[[Maple syrup urine disease]]
*[[Marden-walker syndrome ]]
*[[Marfanoid ]]
*[[Marinesco-sjogren syndrome ]]
*[[Marinesco-sjogren-garland syndrome]]
*[[Maroteaux-fonfria syndrome ]]
*[[Marshall-smith-weaver syndrome]]
*[[Martsolf syndrome]]
*[[Masa syndrome]]
*[[Massa-casaer-ceulemans syndrome ]]
*[[Mastocytosis ]]
*[[Maternal cytomegalovirus]]
*[[Maternal drug use]]
*[[Maternal rubella]]
*[[Maternal syphilis]]
*[[Maternal toxoplasmosis]]
*[[Maternally inherited leigh syndrome]]
*[[Matsoukas syndrome ]]
*[[Matsoukas-liarikos-giannika syndrome ]]
*[[Mcdonough syndrome ]]
*[[Mcdowall syndrome ]]
*[[Mclain-dekaban syndrome ]]
*[[Measles]]
*[[Meckel-gruber syndrome]]
*[[Mecp2 duplication syndrome]]
*[[Medrano-roldan syndrome]]
*[[Megalencephalic leukoencephalopathy with subcortical cysts]]
*[[Megalencephaly ]]
*[[Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1]]
*[[Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2]]
*[[Megalocornea mental retardation syndrome ]]
*[[Megarbane syndrome ]]
*[[Meinecke syndrome]]
*[[Melas]]
*[[Meleda disease ]]
*[[Meningitis]]
*[[Meningitis ]]
*[[Meningococcal a ]]
*[[Meningococcal b ]]
*[[Meningococcal c ]]
*[[Meningoencephalocele ]]
*[[Menke disease]]
*[[Menkes disease]]
*[[Mercury poisoning]]
*[[Mercury poisoning ]]
*[[Methaemoglobinemia ]]
*[[Methionine malabsorption]]
*[[Methionine malabsorption syndrome ]]
*[[Methionine synthase deficiency]]
*[[Methylcobalamin deficiency]]
*[[Methylenetetrahydrofolate reductase deficiency]]
*[[Methylmalonate semialdehyde dehydrogenase deficiency]]
*[[Methylmalonic acidemia and homocystinuria, cblc type]]
*[[Methylmalonic acidemia and homocystinuria, cbld type]]
*[[Methylmalonic acidemia ]]
*[[Methylmalonic aciduria type 2]]
*[[Methylmalonicaciduria ]]
*[[Methylmercury ]]
*[[Mevalonate kinase deficiency]]
*[[Michelin tire baby syndrome ]]
*[[Michels syndrome]]
*[[Mickleson syndrome]]
*[[Micpch syndrome]]
*[[Micrencephaly corpus callosum agenesis ]]
*[[Micro syndrome ]]
*[[Microbrachycephaly ]]
*[[Microcephalic osteodysplastic primordial dwarfism]]
*[[Microcephaly primary autosomal recessive, type 1]]
*[[Microcephaly ]]
*[[Microcephaly-capillary malformation syndrome]]
*[[Microdeletion 3q29 ]]
*[[Microencephaly ]]
*[[Microgastria short stature diabetes ]]
*[[Micromelic dwarfism, fryns type ]]
*[[Microphthalmia ]]
*[[Microphthalmia-dermal aplasia-sclerocornea syndrome]]
*[[Mietens syndrome ]]
*[[Mild citrullinemia]]
*[[Miles-carpenter x-linked syndrome ]]
*[[Miller-dieker syndrome]]
*[[Mirhosseini-holmes-walton syndrome]]
*[[Mitochondrial aspartyl-trna synthetase deficiency]]
*[[Mitochondrial dna depletion syndrome 13 ]]
*[[Mitochondrial encephalomyopathy ]]
*[[Mobius syndrome ]]
*[[Mohr syndrome ]]
*[[Mohr-tranebjaerg syndrome]]
*[[Molybdenum cofactor deficiency]]
*[[Molybdenum cofactor deficiency complementation group b]]
*[[Momo syndrome ]]
*[[Monoamine oxidase a deficiency]]
*[[Monoamine oxidase a deficiency ]]
*[[Monosomy 12p13 ]]
*[[Monosomy 13q32]]
*[[Monosomy 1p36 ]]
*[[Monosomy 20p ]]
*[[Monosomy 8q12 21 ]]
*[[Monosomy 8q21 q22 ]]
*[[Montefiore syndrome ]]
*[[Morm syndrome ]]
*[[Mowat-wilson syndrome]]
*[[Mowat-wilson syndrome ]]
*[[Mrxs9 ]]
*[[Mrxs-christianson ]]
*[[Mucolipidoses ]]
*[[Mucolipidosis ii ]]
*[[Mucolipidosis iii ]]
*[[Mucolipidosis iv]]
*[[Mucopolysaccharidoses ]]
*[[Mucopolysaccharidosis vii]]
*[[Mucosulfatidosis]]
*[[Muller-barth-menger syndrome ]]
*[[Multifocal heterotopia ]]
*[[Multiple carboxylase deficiency, propionic acidemia ]]
*[[Multiple congenital anomalies ]]
*[[Multiple endocrine abnormalities ]]
*[[Multiple mitochondrial dysfunctions syndrome type 1]]
*[[Multiple pterygium syndrome]]
*[[Multiple pterygium syndrome ]]
*[[Multiple synostosis syndrome ]]
*[[Muscle phosphoglycerate kinase deficiency]]
*[[Muscle-eye-brain disease]]
*[[Muscle-eye-brain syndrome ]]
*[[Muscular dystrophy ]]
*[[Myhre syndrome]]
*[[Myhre-ruvalcaba-graham syndrome]]
*[[Myopathy ]]
*[[Myotonic dystrophy]]
*[[Myxedema ]]
*[[N syndrome]]
*[[N-acetyl glutamate synthetase deficiency ]]
*[[Nadh-dependent methemoglobin reductase deficiency]]
*[[Nakajo syndrome ]]
*[[Nakajo-nishimura syndrome ]]
*[[Narp syndrome]]
*[[Neonatal ald ]]
*[[Nephroblastomatosis]]
*[[Nephrogenic diabetes insipidus ]]
*[[Nephrosis neuronal dysmigration syndrome ]]
*[[Neuhauser syndrome]]
*[[Neural tube defects]]
*[[Neuraminidase deficiency ]]
*[[Neuroaxonal dystrophy ]]
*[[Neurodegenerative syndrome]]
*[[Neuroectodermal endocrine syndrome ]]
*[[Neurofaciodigitorenal syndrome ]]
*[[Neurofibromatosis type 1]]
*[[Neurofibromatosis-noonan syndrome ]]
*[[Neuronal ceroid lipofuscinosis 3]]
*[[Neuronal migration disorders ]]
*[[Neuropathy ]]
*[[Nguyen syndrome ]]
*[[Nicolaides-baraitser syndrome]]
*[[Nicolaides-baraitser syndrome ]]
*[[Niemann-pick disease ]]
*[[Night blindness ]]
*[[Nijmegen chromosome breakage syndrome]]
*[[Nivelon-nivelon-mabille syndrome ]]
*[[Nomid syndrome ]]
*[[Nonbullous congenital ichthyosiform erythroderma]]
*[[Non-ketotic hyperglycinemia l protein deficiency]]
*[[Non-ketotic hyperglycinemia type 3]]
*[[Non-lissencephalic cortical dysplasia ]]
*[[Noonan syndrome]]
*[[Noonan's syndrome]]
*[[Norman-roberts syndrome]]
*[[Norrie disease]]
*[[Norrie's disease]]
*[[Nyssen-van bogaert-meyer syndrome ]]
*[[Occipital horn syndrome]]
*[[Oculocerebral hypopigmentation syndrome]]
*[[Oculocerebrocutaneous syndrome]]
*[[Oculocutaneous tyrosinemia ]]
*[[Oculodental syndrome ]]
*[[Oculodigitoesophagoduodenal syndrome ]]
*[[Oculopalatocerebral syndrome ]]
*[[Oculopalatoskeletal syndrome]]
*[[Oculopalatoskeletal syndrome ]]
*[[Odontoonychodermal dysplasia ]]
*[[Ofd syndrome]]
*[[Ohdo blepharophimosis syndrome]]
*[[Ohdo syndrome]]
*[[Ohtahara syndrome]]
*[[Ohtahara syndrome ]]
*[[Oliver syndrome ]]
*[[Onat syndrome]]
*[[Onychodystrophy ]]
*[[Onychotrichodysplasia ]]
*[[Ophthalmoplegia]]
*[[Opitz g syndrome ]]
*[[Opitz trigonocephaly syndrome]]
*[[Opitz-frias syndrome]]
*[[Opitz-kaveggia syndrome]]
*[[Opthalmo acromelic syndrome ]]
*[[Opthalmoplegia ]]
*[[Optic atrophy ]]
*[[Oral facial digital syndrome]]
*[[Oral-facial-digital syndrome type 3]]
*[[Ornithine carbamyltransferase deficiency]]
*[[Ornithine transcarbamylase deficiency ]]
*[[Orocraniodigital syndrome]]
*[[Orofaciodigital syndrome type 1]]
*[[Orofaciodigital syndrome type i ]]
*[[Orotic aciduria hereditary ]]
*[[Oroticaciduria 1 ]]
*[[Orotidylic decarboxylase deficiency]]
*[[Osteochondrodysplatic dwarfism ]]
*[[Osteopathia striata with cranial sclerosis]]
*[[Osteopetrosis ]]
*[[Osteoporosis-pseudoglioma syndrome]]
*[[Otoonychoperoneal syndrome ]]
*[[Otopalatodigital syndrome type 2]]
*[[Otospondylomegaepiphyseal dysplasia ]]
*[[Ovarioleukodystrophy ]]
*[[Pachygyria ]]
*[[Paine syndrome ]]
*[[Palant cleft palate syndrome ]]
*[[Pallister killian mosaic syndrome ]]
*[[Paris-trousseau thrombocytopenia]]
*[[Paris-trousseau thrombocytopenia ]]
*[[Partial 7p monosomy ]]
*[[Partial lissencephaly ]]
*[[Partial trisomy 18 syndrome ]]
*[[Partington x-linked mental retardation syndrome]]
*[[Partington x-linked mental retardation syndrome ]]
*[[Passos-bueno syndrome ]]
*[[Patau syndrome]]
*[[Patella hypoplasia ]]
*[[Patterson pseudoleprechaunism syndrome ]]
*[[Patterson-stevenson syndrome ]]
*[[Pectus excavatum macrocephaly dysplastic nails ]]
*[[Pericardium absent ]]
*[[Periodic hyperlysinemia]]
*[[Perisylvian syndrome]]
*[[Perisylvian syndrome ]]
*[[Periventricular laminar heterotopia ]]
*[[Peroxisomal acyl-coa oxidase deficiency]]
*[[Perrault syndrome 1]]
*[[Petit-fryns syndrome ]]
*[[Pettigrew syndrome]]
*[[Pfeiffer syndrome ]]
*[[Pfeiffer-mayer syndrome]]
*[[Pfeiffer-tietze-welte syndrome ]]
*[[Phacomatosis pigmentokeratotica ]]
*[[Phenobarbital antenatal infection ]]
*[[Phenylalanine hydroxylase deficiency]]
*[[Phenylketonuria]]
*[[Phenylketonuria ]]
*[[Phillips-griffiths syndrome ]]
*[[Phosphoglycerate dehydrogenase deficiency]]
*[[Phosphoglycerate kinase 1 deficiency ]]
*[[Phosphoribosylpyrophosphate synthetase deficiency]]
*[[Phosphoribosylpyrophosphate synthetase deficiency ]]
*[[Phosphoribosylpyrophosphate synthetase superactivity ]]
*[[Pibids syndrome ]]
*[[Pik3ca-associated segmental overgrowth]]
*[[Pili torti ]]
*[[Pilo dento ungular dysplasia ]]
*[[Pilotto syndrome]]
*[[Pitt-hopkins syndrome]]
*[[Pitt-hopkins syndrome ]]
*[[Pitt-rogers-danks syndrome]]
*[[Pitt-rogers-danks syndrome ]]
*[[Piussan-lenaert-mathieu syndrome ]]
*[[Plum syndrome ]]
*[[Pneumococcal meningitis ]]
*[[Poikilodermatomyositis ]]
*[[Pollitt syndrome ]]
*[[Polymicrogyria ]]
*[[Polyneuropathy]]
*[[Pontocerebellar hypoplasia ]]
*[[Pontocerebellar hypoplasia type 1]]
*[[Pontocerebellar hypoplasia type 2a]]
*[[Popliteal pterygium syndrome]]
*[[Porencephaly type 1]]
*[[Porencephaly ]]
*[[Potocki-lupski syndrome ]]
*[[Potocki-shaffer syndrome]]
*[[Powell-chandra-saal syndrome ]]
*[[Ppm-x syndrome]]
*[[Prader-willi syndrome]]
*[[Prader-willi syndrome ]]
*[[Prenatal dwarfism ]]
*[[Prenatal infections]]
*[[Primerose syndrome ]]
*[[Progeria ]]
*[[Progressive encephalopathy-edema-hypsarrhythmia-optic atrophy syndrome]]
*[[Progressive neurodegeneration ]]
*[[Prolidase deficiency]]
*[[Prolidase deficiency ]]
*[[Propionyl-coa carboxylase deficiency]]
*[[Propionyl-coa carboxylase deficiency pcca type]]
*[[Proteus syndrome]]
*[[Proud syndrome]]
*[[Proud-levine-carpenter syndrome ]]
*[[Proximal 19q trisomy ]]
*[[Pseudoadrenoleukodystrophy]]
*[[Pseudoaminopterin syndrome ]]
*[[Pseudoglycogenosis ii ]]
*[[Pseudohypoparathyroidism]]
*[[Pseudohypoparathyroidism type 1a]]
*[[Pseudoprogeria syndrome ]]
*[[Pseudo-torch syndrome ]]
*[[Pterygia ]]
*[[Pterygium ]]
*[[Ptosis ]]
*[[Purine nucleoside phosphorylase  deficiency]]
*[[Purine nucleoside phosphorylase (pnp) deficiency ]]
*[[Pyridoxine-5'-phosphate oxidase deficiency]]
*[[Pyridoxine-dependent epilepsy]]
*[[Pyruvate carboxylase deficiency ]]
*[[Pyruvate dehydrogenase deficiency]]
*[[Pyruvate dehydrogenase deficiency ]]
*[[Pyruvate dehydrogenase e3 binding protein deficiency]]
*[[Quattrin mcpherson syndrome ]]
*[[Rajab-spranger syndrome]]
*[[Ramban-hasharon syndrome ]]
*[[Ramon syndrome]]
*[[Ramos-arroyo syndrome ]]
*[[Ramsay hunt syndrome type i ]]
*[[Rasmussen encephalitis ]]
*[[Rayner-lampert-rennert syndrome ]]
*[[Reardon-wilson-cavanagh syndrome ]]
*[[Recessive deafness-onychodystrophy-osteodystrophy-retardation syndrome]]
*[[Reese-ellsworth syndrome ]]
*[[Renpenning syndrome 1]]
*[[Renpenning syndrome ]]
*[[Retinitis pigmentosa ]]
*[[Retinopathy pigmentary mental retardation]]
*[[Rett syndrome]]
*[[Rhizomelic chondrodysplasia punctata]]
*[[Rhizomelic syndrome]]
*[[Rhombencephalosynapsis]]
*[[Richards-rundle syndrome]]
*[[Richieri costa guion-almeida syndrome ]]
*[[Richieri-costa da silva syndrome ]]
*[[Rickets ]]
*[[Rieger syndrome ]]
*[[Ring d2 chromosome ]]
*[[Ritscher-schinzel syndrome]]
*[[Roberts pseudothalidomide syndrome]]
*[[Roberts syndrome ]]
*[[Rodrigues blindness]]
*[[Roifman syndrome ]]
*[[Rommen-mueller-sybert syndrome ]]
*[[Rubella]]
*[[Rubella ]]
*[[Rubella congenital syndrome ]]
*[[Rubinstein-taybi syndrome]]
*[[Rud syndrome]]
*[[Rud's syndrome]]
*[[Rutherfurd syndrome]]
*[[Ruvalcaba-myhre-smith syndrome]]
*[[Ruvalcaba-reichert-smith syndrome]]
*[[Ruzicka-goerz-anton syndrome ]]
*[[Sabin-feldman syndrome ]]
*[[Saccharopine dehydrogenase deficiency]]
*[[S-adenosylhomocysteine hydrolase deficiency]]
*[[Salaam attacks]]
*[[Salla disease]]
*[[Sandhoff disease]]
*[[Sanfilippo disease]]
*[[Sanfilippo syndrome]]
*[[Sanjad-sakati syndrome]]
*[[Santavuori disease ]]
*[[Sarcosinaemia]]
*[[Saul-wilkes-stevenson syndrome ]]
*[[Savants]]
*[[Say-barber-miller syndrome ]]
*[[Say-carpenter syndrome ]]
*[[Say-field-coldwell syndrome]]
*[[Say-meyer syndrome]]
*[[Say-meyer syndrome ]]
*[[Scarf syndrome ]]
*[[Schaap-taylor-baraitser syndrome ]]
*[[Schaefer-stein-oshman syndrome ]]
*[[Schimke, x-linked, mental retardation syndrome ]]
*[[Schindler disease]]
*[[Schinzel acrocallosal syndrome]]
*[[Schinzel-giedion midface-retraction syndrome]]
*[[Schizencephaly]]
*[[Schofer beetz bohl syndrome ]]
*[[Scholte syndrome ]]
*[[Schwartz-jampel-aberfeld syndrome]]
*[[Sclerosing bone dysplasia ]]
*[[Scott craniodigital syndrome ]]
*[[Scott syndrome]]
*[[Seckel syndrome ]]
*[[Seemanova syndrome 1]]
*[[Seemanova-lesny syndrome]]
*[[Seitelberger's disease]]
*[[Seizure]]
*[[Sengers-hamel-otten syndrome ]]
*[[Senior-loken syndrome ]]
*[[Sensenbrenner syndrome]]
*[[Sensory deprivation]]
*[[Sepiapterin reductase deficiency]]
*[[Septooptic dysplasia ]]
*[[Septo-optic dysplasia ]]
*[[Sesame syndrome]]
*[[Severe achondroplasia with developmental delay and acanthosis nigricans ]]
*[[Severe myoclonic epilepsy in infancy]]
*[[Shaken baby syndrome ]]
*[[Short limb dwarf mental retardation myopia ]]
*[[Shoulder and girdle defect ]]
*[[Shprintzen omphalocele syndrome ]]
*[[Shprintzen-golberg craniosynostosis ]]
*[[Shprintzen-goldberg syndrome]]
*[[Shwachman syndrome ]]
*[[Shwachman-diamond syndrome]]
*[[Sialidosis type 1]]
*[[Sialidosis type 2]]
*[[Sialidosis ]]
*[[Sialuria]]
*[[Sibids syndrome ]]
*[[Siderius type x-linked mental retardation syndrome ]]
*[[Siderius x-linked mental retardation syndrome]]
*[[Simpson dysmorphia syndrome ]]
*[[Simpson-golabi-behmel syndrome]]
*[[Simpson-golabi-behmel syndrome ]]
*[[Singh-chhaparwal-dhanda syndrome ]]
*[[Sjogren-larsson syndrome]]
*[[Smith-fineman-myers syndrome ]]
*[[Smith-lemli-opitz syndrome]]
*[[Smith-magenis syndrome]]
*[[Smith-magenis syndrome ]]
*[[Smith-martin-dodd syndrome ]]
*[[Smith-mccort dysplasia]]
*[[Snyder-robinson syndrome]]
*[[Snyder-robinson syndrome ]]
*[[Sohval-soffer syndrome ]]
*[[Sotos syndrome]]
*[[Southwestern athabaskan genetic disease]]
*[[Sox2 anophthalmia syndrome]]
*[[Spastic diplegia]]
*[[Spastic paraplegia]]
*[[Spastic paraplegia 11]]
*[[Spastic paresis ]]
*[[Spastic quadriplegia]]
*[[Spastic tetraplegic ]]
*[[Spasticity ]]
*[[Sphingolipidosis ]]
*[[Sphingomyelinase deficiency]]
*[[Spinocerebellar ataxia ]]
*[[Spinocerebellar degenerescence]]
*[[Spondyloepimetaphyseal dysplasia]]
*[[Spondylometaphyseal dysplasia]]
*[[Spondylometaphyseal dysplasia, x-linked]]
*[[Spondyloperipheral dysplasia]]
*[[Ssadh deficiency ]]
*[[Stevenson-carey syndrome ]]
*[[Stickler's syndrome ]]
*[[Stiff baby syndrome ]]
*[[Stimmler syndrome]]
*[[Stimulus deprivation]]
*[[Stoll-geraudel-chauvin syndrome ]]
*[[Stratton-parker syndrome ]]
*[[Striatonigral degeneration infantile ]]
*[[Sturge-weber syndrome]]
*[[Sturge-weber syndrome ]]
*[[Stuve-wiedemann syndrome ]]
*[[Subacute necrotising encephalomyelopathy]]
*[[Subcortical laminar heterotopia ]]
*[[Succinic semialdehyde dehydrogenase deficiency]]
*[[Succinic semialdehyde dehydrogenase deficiency ]]
*[[Succinyl-coa synthetase deficiency]]
*[[Sudanophilic cerebral sclerosis]]
*[[Sulphite oxidase deficiency]]
*[[Sutherland-haan syndrome]]
*[[Sylvester syndrome ]]
*[[Symmetrical thalamic calcifications ]]
*[[Syndactyly ]]
*[[Syngap1-related intellectual disability]]
*[[Syphilis]]
*[[Tau syndrome]]
*[[Tay-sachs disease]]
*[[Telencephalic leukoencephalopathy ]]
*[[Temtamy preaxial brachydactyly syndrome ]]
*[[Temtamy syndrome ]]
*[[Ter haar syndrome]]
*[[Tetrahydrobiopterin deficiency]]
*[[Tetramelic deficiencies ]]
*[[Tetrasomy x ]]
*[[Thanos-stewart-zonana syndrome ]]
*[[The congenital lactic acidoses ]]
*[[Thiele syndrome ]]
*[[Thiolase deficiency ]]
*[[Thompson-baraitser syndrome ]]
*[[Thoracic dysplasia ]]
*[[Thrombocytopenia ]]
*[[Thyrotropin deficiency]]
*[[Timothy syndrome]]
*[[Torch syndrome ]]
*[[Toriello syndrome ]]
*[[Toxoplasmosis ]]
*[[Tranebjaerg-svejgaard syndrome ]]
*[[Transplacental infections ]]
*[[Trichodental syndrome ]]
*[[Trichohepatoenteric syndrome 1]]
*[[Tricho-hepato-enteric syndrome ]]
*[[Tricho-retino-dento-digital syndrome ]]
*[[Trichorrhexis nodosa syndrome ]]
*[[Trichoscyphodysplasia ]]
*[[Tricho-thiodystrophy]]
*[[Trichothiodystrophy ]]
*[[Trigonocephaly ]]
*[[Triosephosphate isomerase deficiency]]
*[[Trisomy 12 mosaicism ]]
*[[Trisomy 13 mosaicism ]]
*[[Trisomy 14 mosaic ]]
*[[Trisomy 14 mosaicism syndrome ]]
*[[Trisomy 18 mosaicism]]
*[[Trisomy 18 syndrome ]]
*[[Trisomy 1q44-qter ]]
*[[Trisomy 21 mosaicism ]]
*[[Trisomy 22]]
*[[Trisomy 22 mosaicism ]]
*[[Trisomy 3 mosaicism ]]
*[[Trisomy 6 ]]
*[[Trisomy 8 mosaicism ]]
*[[Trisomy x]]
*[[Tsao-ellingson syndrome ]]
*[[Tsukuhara syndrome]]
*[[Tubb4a-related leukodystrophy]]
*[[Tuberous sclerosis]]
*[[Tuberous sclerosis ]]
*[[Turner syndrome]]
*[[Turner-mongolism polysyndrome ]]
*[[Turner's syndrome]]
*[[Tyrosinaemia type 2]]
*[[Tyrosinemia, type iii]]
*[[Udp-galactose-4-epimerase deficiency ]]
*[[Uncontrolled diabetes mellitus]]
*[[Uniparental disomy]]
*[[Universal acquired melanosis ]]
*[[Unusual facies]]
*[[Upper limb defect eye and ear abnormalities ]]
*[[Upton young syndrome ]]
*[[Urban roger meyer syndrome ]]
*[[Urocanate hydratase deficiency]]
*[[Vacterl hydrocephaly ]]
*[[Vagneur triolle ripert syndrome]]
*[[Valinemia]]
*[[Van bogaert-hozay syndrome]]
*[[Van buchem disease type 2 ]]
*[[Van den bosch syndrome ]]
*[[Van der knaap disease]]
*[[Van maldergem wetzburger verloes syndrome]]
*[[Varadi-papp syndrome]]
*[[Vasquez hurst sotos syndrome ]]
*[[Velocardiofacial syndrome]]
*[[Venencie powell winkelmann syndrome ]]
*[[Verloes gillerot fryns syndrome ]]
*[[Viljone kallis voges syndrome]]
*[[Vitamin d toxicity ]]
*[[Vitamin k antagonists embryofoetopathy ]]
*[[Vitiligo mental retardation facial dysmorphism uremia ]]
*[[Vldlr-associated cerebellar hypoplasia]]
*[[W syndrome ]]
*[[Waaler aarskog syndrome ]]
*[[Waardenburg syndrome type 3]]
*[[Wagr syndrome]]
*[[Wagr syndrome ]]
*[[Waisman-laxova syndrome]]
*[[Walker dyson syndrome ]]
*[[Walker-warburg syndrome]]
*[[Warburg sjo fledelius syndrome ]]
*[[Warburton anyane yeboa syndrome ]]
*[[Warfarin syndrome ]]
*[[Warsaw breakage syndrome]]
*[[Watson syndrome ]]
*[[Weaver johnson syndrome ]]
*[[Webster deming syndrome ]]
*[[Weismann-netter-stuhl syndrome ]]
*[[Weleber hecht bigley syndrome]]
*[[Wellesley-carman-french syndrome ]]
*[[West syndrome x-linked]]
*[[Whelan syndrome ]]
*[[Wieacker syndrome ]]
*[[Wieacker-wolff syndrome]]
*[[Wieacker-wolff syndrome ]]
*[[Wiedemann oldigs oppermann syndrome ]]
*[[Wiedemann-rautenstrauch syndrome]]
*[[Wiedemann-tolksdorf syndrome ]]
*[[Wildervanck syndrome]]
*[[Wilkes stevenson syndrome]]
*[[Williams syndrome]]
*[[Wilms tumor]]
*[[Wilson-turner x-linked mental retardation ]]
*[[Winship viljoen leary syndrome ]]
*[[Wittwer sydnrome]]
*[[Wolcott-rallison syndrome ]]
*[[Wolf-hirschhorn syndrome]]
*[[Wolfram syndrome]]
*[[Woodhouse sakati syndrome]]
*[[Worster-drought syndrome]]
*[[Wrinkly skin syndrome]]
*[[Wyatt disease ]]
*[[Wyburn-mason syndrome ]]
*[[X chromosome, duplication xq13 1 q21 1 ]]
*[[X chromosome, trisomy 26-28 ]]
*[[X chromosome, trisomy xp3]]
*[[X chromosome, trisomy xpter xq13 ]]
*[[X chromosome, trisomy xq ]]
*[[X chromosome, trisomy xq25 ]]
*[[Xeroderma pigmentosum]]
*[[X-linked mental retardation associated with fragile site fraxe]]
*[[X-linked mental retardation hypotonic facies syndrome]]
*[[X-linked periventricular heterotopia]]
*[[Xlmr-hypotonic facies syndrome ]]
*[[Xylosylprotein 4-beta-galactosyltransferase deficiency]]
*[[Yager-young syndrome]]
*[[Young simpson syndrome ]]
*[[Young-hughes syndrome]]
*[[Yunis-varon syndrome]]
*[[Zazam sheriff phillips syndrome ]]
*[[Zechi-ceide syndrome]]
*[[Zellweger syndrome]]
*[[Zlotogora syndrome ]]
*[[Zori stalker williams syndrome ]]
*[[Zunich neuroectodermal syndrome]]
*[[Zunich neuroectodermal syndrome ]]
*[[Zunich-kaye syndrome]]
}}


== References ==
== References ==
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[[Category:Primary care]]
[[Category:Psychiatry]]
[[Category:Psychiatry]]
[[Category:Neurology]]
[[Category:Neurology]]

Latest revision as of 03:11, 20 July 2021

Mental retardation Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]

Overview

Possible causes for intellectual disability can be divided into genetic causes and environmental factors.

Causes

In less than 50% of individuals with mild ID, a specific cause is identified, and it increases to 75% in those with severe ID. [1]

Genetics

Down syndrome (Trisomy 21) is the most common genetic cause of ID, while Fragile X is the most common inherited cause of ID. [1]

Environmental Factors

Alcohol exposure during pregnancy, lead and other heavy metals, iodine deficiency, brain infections, congenital rubella syndrome, and cytomegalovirus infections, as well as hypoxic-ischemic injury, and periventricular hemorrhages all cause brain injury resulting in disability. [2]

References

  1. ↑ 1.0 1.1 Moeschler, J. B.; Shevell, M. (2014). "Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays". PEDIATRICS. 134 (3): e903–e918. doi:10.1542/peds.2014-1839. ISSN 0031-4005.
  2. ↑ "Intellectual Disability and Mental Health Problems : Evaluation of Two Clinical Assessment Instruments, Occurrence of Mental Health Problems and Psychiatric Care Utilisation".

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