Mental retardation causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

Common 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:

• 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, Phelan-McDermid syndrome (22q13del), Mowat-Wilson syndrome, Lesch-Nyhan syndrome, Rett syndrome, Sanfilippo syndrome, and phenylketonuria (PKU).
• 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.
• 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 poisons like lead or 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 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, China and Kazakhstan have begun taking action, while Russia has not.
• Malnutrition is a common cause of reduced intelligence in parts of the world affected by famine, such as Ethiopia.
• The use of forceps during birth can 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

• 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