Mental retardation causes
|
Mental retardation Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Mental retardation causes On the Web |
|
American Roentgen Ray Society Images of Mental retardation causes |
|
Risk calculators and risk factors for Mental retardation causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]
Overview
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Causes
- ymptom/manifestation] include [cause1], [cause2], and [cause3].
- [Cause] is a life-threatening cause of [disease].
Common Causes
Common causes of [disease name] may include:
- [Cause1]
- [Cause2]
- [Cause3]
OR
- [Disease name] is caused by an infection with [pathogen name].
- [Pathogen name] is caused by [pathogen name].
Less Common Causes
Less common causes of [disease name] include:
- [Cause1]
- [Cause2]
- [CauseCauses by OrganList the causes of the disease in alphabetical order:
- Cause 1
- Cause 2
- Cause 3
- Cause 4
- Cause 5
- Cause 6
- Cause 7
- Cause 8
- Cause 9
- Cause 10
Causes in Alphabetical Order
- 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