| |bgcolor="Beige"| [[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 ]], [[Agyria pachygyria polymicrogyria ]], [[Albright's hereditary osteodystrophy ]], [[Alpha thalassaemia x-linked mental retardation syndrome]], [[Alpha-ketoglutarate dehydrogenase deficiency]], [[Atp6v0a2-related cutis laxa]], [[Atr-x syndrome ]], [[Autism]], [[Battaglia neri syndrome ]], [[Bbb syndrome, x-linked ]], [[Carbonic anhydrase type 2 deficiency]], [[Carbonic anhydrase va deficiency]], [[Chondrodysplasia]], [[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 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, 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 8p ]], [[Chromosome 8, trisomy 8q ]], [[Chromosome 8, trisomy]], [[Chromosome 8p duplication syndrome ]], [[Chromosome 8p inverted duplication syndrome ]], [[Chromosome 8p mosaic tetrasomy ]], [[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 9p ]], [[Chromosome 9, trisomy 9p]], [[Chromosome 9, trisomy 9q ]], [[Chromosome 9, trisomy 9q32 ]], [[Chromosome 9, trisomy]], [[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 ]], [[Coenzyme q10 deficiency]], [[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 myotonic dystrophy]], [[Congenital toxoplasmosis]]
| |
| |bgcolor="Beige"| [[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 ]], [[Adenylosuccinate lyase deficiency]], [[Adrenoleukodystrophy ]], [[Agenesis of the corpus callosum ]], [[Agyria pachygyria polymicrogyria ]], [[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]], [[Alopecia mental retardation syndrome ]], [[Alpers syndrome ]], [[Alpha thalassaemia x-linked mental retardation syndrome]], [[Alpha-ketoglutarate dehydrogenase deficiency]], [[Alpha-l-iduronidase deficiency]], [[Alpha-mannosidase deficiency]], [[Alpha-thalassemia]], [[Alport syndrome ]], [[Aminoacidopathies ]], [[Aminomethyltransferase deficiency]], [[Ampola syndrome ]], [[Amyloidosis of gingiva and conjunctiva ]], [[Anauxetic dysplasia ]], [[Andermann 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]], [[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 ]], [[Arthrogryposis ]], [[Arthrogryposis]], [[Aspartoacylase deficiency]], [[Aspartylglucosaminidase deficiency]], [[Asphyxiating thoracic dystrophy ]], [[Ataxia tapetoretinal degeneration ]], [[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]], [[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-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]], [[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 ]], [[Chanarin-dorfman disease]], [[Charcot-marie-tooth-hoffmann syndrome, x-linked type 2]], [[Charcot-marie-tooth-hoffmann syndrome]], [[Charge syndrome]], [[Childhood disintegrative disorder]], [[Chitayat-moore-del bigio syndrome ]], [[Chitty hall baraitser syndrome ]], [[Chitty-hall-webb syndrome ]], [[Cholestanol storage disease]], [[Chondrodysplasia]], [[Chorioretinopathy dominant form ]], [[Choroideremia]], [[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 8p ]], [[Chromosome 8, trisomy 8q ]], [[Chromosome 8, trisomy]], [[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 9p ]], [[Chromosome 9, trisomy 9p]], [[Chromosome 9, trisomy 9q ]], [[Chromosome 9, trisomy 9q32 ]], [[Chromosome 9, trisomy]], [[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 ]], [[Chylomicron retention disease]], [[Cinca syndrome]], [[Ck syndrome]], [[Clark-baraitser syndrome ]], [[Classic galactosemia ]], [[Classical pyridoxine-dependent seizures ]], [[C-like syndrome]], [[Coach syndrome]], [[Cockayne syndrome]], [[Codas syndrome]], [[Coenzyme q10 deficiency]], [[Coffin-lowry syndrome]], [[Coffin-siris syndrome]], [[Cohen 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 muscular dystrophy]], [[Congenital myotonic dystrophy]], [[Copper poisoning]], [[Corneal anesthesia deafness intellectual deficit ]], [[Corneal anesthesia deafness mental retardation]], [[Corneal cerebellar syndrome ]],
| |