Multiple system malformation syndrome

Code	`82354003`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

88007800111p15 deletion syndrome disorder

88008100612q15 deletion syndrome disorder

88008600112q24.31-q24.32 deletion syndrome disorder

2034800214q partial distal trisomy syndrome disorder

8358500114q partial proximal trisomy syndrome disorder

77134100614q11.2 microduplication syndrome disorder

71957400714q12 microdeletion syndrome disorder

71957500815q14 microdeletion syndrome disorder

69930800215q24 microdeletion disorder

76847100616p12.2 microdeletion syndrome disorder

71957700016p13.11 microdeletion syndrome disorder

73347300016p13.3 microduplication syndrome disorder

73351900817q12 microdeletion syndrome disorder

71958400817q23.1q23.2 microdeletion syndrome disorder

122987300917q24.2 microdeletion syndrome disorder

122988300819p13.3 microduplication syndrome disorder

7667660051p31p32 microdeletion syndrome disorder

7713370071q21.1 microduplication syndrome disorder

7165150001q41q42 microdeletion syndrome disorder

7196490041q44 microdeletion syndrome disorder

71965000420p12.3 microdeletion syndrome disorder

77334600820p13 microdeletion syndrome disorder

76306100420q11.2 microduplication syndrome disorder

73352000220q13.33 microdeletion syndrome disorder

76726300722q11.2 deletion syndrome disorder

69931100122q11.2 duplication syndrome disorder

7196570012q23.1 microdeletion syndrome disorder

7163870042q31.1 microdeletion syndrome disorder

7196590032q32q33 microdeletion syndrome disorder

7267050073q13 microdeletion syndrome disorder

13679000043q26q28 deletion syndrome disorder

7164560003q29 microdeletion syndrome disorder

73362200046,XX disorder of sex development with anorectal anomalies syndrome disorder

73362100746,XX disorder of sex development with skeletal anomalies syndrome disorder

73362500348,XYYY syndrome disorder

77090800749,XXXYY syndrome disorder

73402800749,XYYYY syndrome disorder

701730075p partial monosomy syndrome disorder

7196610075q14.3 microdeletion syndrome disorder

8901240005q22.2 deletion syndrome disorder

7196650035q35 microduplication syndrome disorder

7196620006p22 microdeletion syndrome disorder

7647030027p22.1 microduplication syndrome disorder

12288860089q33.3q34.11 microdeletion syndrome disorder

718574003Abruzzo Erickson syndrome disorder

722280000Ackerman syndrome disorder

773773006Acrodysplasia scoliosis disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

763797003Agenesis of corpus callosum and abnormal genitalia syndrome disorder

205817005Aglossia-adactyly syndrome disorder

63702009Alstrom syndrome disorder

720987001Aniridia, ptosis, intellectual disability, familial obesity syndrome disorder

733116005Aniridia, renal agenesis, psychomotor retardation syndrome disorder

773770009Ankyloblepharon filiforme adnatum with imperforate anus syndrome disorder

720494009Anonychia with microcephaly syndrome disorder

720495005Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

720499004Aplasia cutis with myopia syndrome disorder

31742004Arteriohepatic dysplasia disorder

720513002Arthrogryposis with renal dysfunction and cholestasis syndrome disorder

773769008Ataxia, photosensitivity, short stature syndrome disorder

733626002Atypical Norrie disease due to monosomy Xp11.3 disorder

725149008Auricular abnormality, cleft lip, ocular abnormality syndrome disorder

1208614008Autosomal dominant deafness with onychodystrophy syndrome disorder

765755006Axial mesodermal dysplasia spectrum disorder

717945001BRESEK syndrome disorder

722375007Bamforth Lazarus syndrome disorder

5619004Bardet-Biedl syndrome disorder

717887003Biemond syndrome type 2 disorder

205828009Biemond's syndrome disorder

717909004Bilateral microtia with deafness and cleft palate syndrome disorder

1304113005Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome disorder

716180009Boder syndrome disorder

21634003Borjeson-Forssman-Lehmann syndrome disorder

720567008Bosley Salih Alorainy syndrome disorder

720575002Braddock syndrome disorder

720576001Brain calcification Rajab type disorder

732961003Branchial dysplasia, intellectual disability, inguinal hernia syndrome disorder

717944002Branchiogenic deafness syndrome disorder

764810000Branchiootic syndrome disorder

715409005C syndrome disorder

1299154002CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome disorder

47535005CHARGE syndrome disorder

1332510002CHD4-related neurodevelopmental disorder disorder

1332508004CIMDAG syndrome disorder

773329005CK syndrome disorder

1332382002COMMAD syndrome disorder

1332387008Cardiac urogenital syndrome disorder

720606005Cardiocranial syndrome Pfeiffer type disorder

720612000Cardiospondylocarpofacial syndrome disorder

26445008Cat eye syndrome disorder

720634003Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome disorder

763344007Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome disorder

51780007Cerebro-costo-mandibular syndrome disorder

720852000Cervical hypertrichosis and peripheral neuropathy syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

1281843005Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome disorder

720636001Cholestasis with pigmentary retinopathy and cleft palate syndrome disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

717761005Choroideraemia with deafness and obesity syndrome disorder

702354007Christianson syndrome disorder

726733007Chromosome Xp22.3 microdeletion syndrome disorder

718881004Chromosome Xq27.3q28 duplication syndrome disorder

719468005Cleft palate with stapes fixation and oligodontia syndrome disorder

1335869007Cleft palate, congenital heart defect, intellectual disability syndrome disorder

763130006Cleft palate, large ears, small head syndrome disorder

10007009Coffin-Siris syndrome disorder

764455002Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

764942005Colobomatous microphthalmia, rhizomelic dysplasia syndrome disorder

763213001Conductive deafness, ptosis, skeletal anomalies syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

722379001Congenital cataract with hypertrichosis and intellectual disability syndrome disorder

702360007Congenital deafness with labyrinthine aplasia, microtia and microdontia disorder

1174000008Congenital generalised hypercontractile muscle stiffness syndrome disorder

722390006Congenital intrauterine infection-like syndrome disorder

1300191000Congenital pontocerebellar hypoplasia type 13 disorder

1177173001Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

720748007Cooper Jabs syndrome disorder

732248005Coxoauricular syndrome disorder

720756005Craniofacial ulnar renal syndrome disorder

725100001Craniolenticulosutural dysplasia disorder

773332008Craniosynostosis and dental anomalies syndrome disorder

720812002Craniosynostosis, anal anomaly, porokeratosis syndrome disorder

722381004Crome syndrome disorder

17827007Cross syndrome disorder

719800009DOORS syndrome disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

721092005Developmental malformation, deafness, dystonia syndrome disorder

721094006Diaphanospondylodysostosis disorder

721095007Diaphragmatic defect, limb deficiency, skull defect syndrome disorder

58561002Diastrophic dysplasia disorder

774209001Didymosis aplasticosebacea disorder

782737003Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome disorder

719450007Disorder of sex development with intellectual disability syndrome disorder

734029004Distal 22q11.2 microdeletion syndrome disorder

764524005Distal 22q11.2 microduplication syndrome disorder

718687003Distal monosomy 10q syndrome disorder

763527007Distal monosomy 13q syndrome disorder

770410004Distal monosomy 14q syndrome disorder

766050000Distal monosomy 15q disorder

717633007Distal monosomy 1q syndrome disorder

763529005Distal monosomy 7q36 syndrome disorder

764459008Distal trisomy 16q disorder

766053003Distal trisomy 1p36 disorder

764512003Distal trisomy 22q syndrome disorder

763274002Distal trisomy 5q syndrome disorder

782940006Dobrow syndrome disorder

50749006Double Y syndrome disorder

722431007Double uterus, hemivagina, renal agenesis syndrome disorder

49096008Duhamel's syndrome disorder

734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

1208480004Epibulbar lipodermoid, preauricular appendage, polythelia syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

774065001FLOTCH syndrome disorder

723336008Fallot complex with intellectual disability and growth delay syndrome disorder

722493007Familial caudal dysgenesis disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

205573006Focal dermal hypoplasia disorder

765089003Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome disorder

722450007GEMSS syndrome disorder

721297008Galloway Mowat syndrome disorder

773749003Genitopalatocardiac syndrome disorder

702367005Genitopatellar syndrome disorder

253176002Gillespie syndrome disorder

717823001Goldblatt syndrome disorder

205418005Goldenhar syndrome disorder

722451006Gomez Lopez Hernandez syndrome disorder

765434008HIVEP2-related intellectual disability disorder

719973009Haim Munk syndrome disorder

721007005Hair defect with photosensitivity and intellectual disability syndrome disorder

35031005Hanhart's syndrome disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

783159001Holzgreve syndrome disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

773280009Hydrocephalus, blue sclera, nephropathy syndrome disorder

721229003Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome disorder

732926009Hydrocephalus, tall stature, joint laxity syndrome disorder

1237349008Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome disorder

773667003Hypertelorism, preauricular sinus, punctual pits, deafness syndrome disorder

93559003Hypogonadism with anosmia disorder

773673002Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome disorder

733097003Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome disorder

771185000Imperforate oropharynx, costovertebral anomalies syndrome disorder

764861005Intellectual disability Birk-Barel type disorder

1351837003Intellectual disability, cupped ears syndrome disorder

1351838008Intellectual disability, early-onset cataract, microcephaly syndrome disorder

722455002Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

1351655009Jansen-de Vries syndrome disorder

75979009Johanson-Blizzard syndrome disorder

721584005Johnson neuroectodermal syndrome disorder

773626008Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome disorder

1304116002KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome disorder

1304117006KLHL7-related Crisponi/cold-induced sweating-like syndrome disorder

723830005Keratosis follicularis, dwarfism, cerebral atrophy syndrome disorder

726083008Kousseff syndrome disorder

30278004Kundrat's syndrome disorder

724177005LIG4 syndrome disorder

232059000Laurence-Moon syndrome disorder

1172705006Lethal hydranencephaly, diaphragmatic hernia syndrome disorder

773672007Lethal occipital encephalocele, skeletal dysplasia syndrome disorder

1362022003Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

446263001Loeys-Dietz syndrome disorder

766249007Lowe Kohn Cohen syndrome disorder

721974000Lowry MacLean syndrome disorder

1300117002Luscan Lumish syndrome disorder

721083007Lymphoedema hypoparathyroidism syndrome disorder

723367005MACS syndrome disorder

1169358003MARCH syndrome disorder

722037004MEHMO syndrome disorder

1234831009MIRAGE syndrome disorder

1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

782739000Male emopamil-binding protein disorder with neurological defect disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

703539006Manitoba oculotrichoanal syndrome disorder

732262003Marfanoid syndrome De Silva type disorder

722458000Matthew Wood syndrome disorder

726029005McCune Albright syndrome disorder

702407009McKusick Kaufman syndrome disorder

722461004Meacham syndrome disorder

253781004Megacystis, microcolon, hypoperistalsis syndrome disorder

722036008Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome disorder

733522005Megalocornea with intellectual disability syndrome disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

1187195007Microcephalic cortical malformations, short stature due to RTTN deficiency disorder

715482004Microcephalic primordial dwarfism Toriello type disorder

719380003Microcephalus cardiomyopathy syndrome disorder

719379001Microcephalus with cardiac defect and lung malsegmentation syndrome disorder

770655004Microcephalus, brain defect, spasticity, hypernatraemia syndrome disorder

733472005Microcephalus, glomerulonephritis, marfanoid habitus syndrome disorder

733604003Microcephalus, lymphoedema, chorioretinopathy syndrome disorder

773305003Microcephaly, polymicrogyria, corpus callosum agenesis syndrome disorder

723304001Microcephaly, seizure, intellectual disability, heart disease syndrome disorder

770721009Microcephaly, thin corpus callosum, intellectual disability syndrome disorder

721881008Microduplication Xp11.22p11.23 syndrome disorder

1230344000Microphthalmia, microtia, fetal akinesia syndrome disorder

724139004Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome disorder

770566002Monosomy 13q14 syndrome disorder

766716004Monosomy 13q34 syndrome disorder

787411009Monosomy 22 syndrome disorder

72913007Moore-Federman syndrome disorder

829974003Mosaic trisomy 1 syndrome disorder

764463001Mosaic trisomy 12 syndrome disorder

764466009Mosaic trisomy 14 syndrome disorder

764619001Mosaic trisomy 15 syndrome disorder

764621006Mosaic trisomy 16 syndrome disorder

764622004Mosaic trisomy 17 syndrome disorder

764623009Mosaic trisomy 2 syndrome disorder

764624003Mosaic trisomy 20 syndrome disorder

764625002Mosaic trisomy 22 syndrome disorder

764627005Mosaic trisomy 3 syndrome disorder

764629008Mosaic trisomy 5 syndrome disorder

717335009Mosaic trisomy 8 syndrome disorder

81604003Mulibrey nanism syndrome disorder

57544002Multiple malformation syndrome due to non-infectious environmental agents disorder

48637007Multiple malformation syndrome with early overgrowth disorder

65094009Multiple malformation syndrome with facial defects as major feature disorder

41443008Multiple malformation syndrome with limb defect as major feature disorder

12674005Multiple malformation syndrome with senile-like appearance disorder

64162006Multiple malformation syndrome with unusual brain and/or neuromuscular findings disorder

77701002Multiple malformation syndrome, moderate short stature, facial disorder

41483000Multiple malformation syndrome, small stature, without skeletal dysplasia disorder

785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder

773584001Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome disorder

1179299005NEK9-related lethal skeletal dysplasia disorder

773737004NPHP3-related Meckel-like syndrome disorder

723411003Nasopalpebral lipoma coloboma syndrome disorder

723439002Native American myopathy disorder

724092009Nephrosis, deafness, urinary tract, digital malformation syndrome disorder

724091002Neuroectodermal melanolysosomal disease disorder

782694003Non-distal monosomy 12q disorder

236533008Ochoa syndrome disorder

763815000Oculoauricular syndrome Schorderet type disorder

699300009Oculofaciocardiodental syndrome disorder

1356735003Oculogastrointestinal neurodevelopmental syndrome disorder

722055008Oculopalatocerebral syndrome disorder

782945001Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome disorder

105985007Osteochondrodysplasia syndrome disorder

722132007PAGOD syndrome disorder

725138002PELVIS syndrome disorder

698765007PHACE syndrome disorder

763861000Pachygyria, intellectual disability, epilepsy syndrome disorder

1222660008Pancreatic agenesis, holoprosencephaly syndrome disorder

773497001Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome disorder

724070005Paternal 20q13.2q13.3 microdeletion syndrome disorder

763863002Pectus excavatum, macrocephaly, dysplastic nails syndrome disorder

281587000Pentalogy of Cantrell disorder

724068001Pericardial and diaphragmatic defect syndrome disorder

715506001Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome disorder

716194005Pili torti with developmental delay and neurological abnormality syndrome disorder

771186004Poikiloderma, alopecia, retrognathism, cleft palate syndrome disorder

724066002Polysyndactyly and cardiac malformation syndrome disorder

782884005Pontine tegmental cap dysplasia disorder

763821001Porencephaly, cerebellar hypoplasia, internal malformations syndrome disorder

773627004Porencephaly, microcephaly, bilateral congenital cataract syndrome disorder

783701002Port-wine naevi, mega cisterna magna, hydrocephalus syndrome disorder

763866005Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome disorder

724064004Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome disorder

89392001Prader-Willi syndrome disorder

236529001Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness disorder

771262009Pseudoleprechaunism syndrome Patterson type disorder

772225005RAB18 deficiency disorder

1172624000RERE-related neurodevelopmental syndrome disorder

723999009RHYNS syndrome disorder

1222659003RNF13-related severe early-onset epileptic encephalopathy disorder

715471007Reardon Hall Slaney syndrome disorder

782942003Renal caliceal diverticuli and deafness syndrome disorder

763891005Renal hepatic pancreatic dysplasia disorder

782941005Richieri Costa-da Silva syndrome disorder

47017007Ring chromosome 1 syndrome disorder

86997002Ring chromosome 10 syndrome disorder

111310003Ring chromosome 11 syndrome disorder

770595006Ring chromosome 12 syndrome disorder

726723004Ring chromosome 13 syndrome disorder

702345009Ring chromosome 14 syndrome disorder

763405000Ring chromosome 15 syndrome disorder

763406004Ring chromosome 16 syndrome disorder

778043005Ring chromosome 17 syndrome disorder

88154004Ring chromosome 18 syndrome disorder

765484001Ring chromosome 19 syndrome disorder

765485000Ring chromosome 2 syndrome disorder

23686004Ring chromosome 20 syndrome disorder

31325007Ring chromosome 21 syndrome disorder

13555004Ring chromosome 22 syndrome disorder

765486004Ring chromosome 3 syndrome disorder

81678004Ring chromosome 4 syndrome disorder

765487008Ring chromosome 5 syndrome disorder

765488003Ring chromosome 6 syndrome disorder

765489006Ring chromosome 7 syndrome disorder

715983001Ring chromosome 8 syndrome disorder

60650002Ring chromosome 9 syndrome disorder

763407008Ring chromosome Y syndrome disorder

774208009SCALP syndrome disorder

723720008SERKAL syndrome disorder

1300119004SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome disorder

774150004Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome disorder

726629006Scalp defect postaxial polydactyly syndrome disorder

29145002Schwartz-Jampel syndrome disorder

722114007Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome disorder

715464002Seemanova Lesny syndrome disorder

7611002Septo-optic dysplasia sequence disorder

773400009Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

1197586007Short stature, advanced bone age, early-onset osteoarthritis syndrome disorder

1284851009Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome disorder

763631006Short stature, wormian bones, dextrocardia syndrome disorder

721076000Siegler Brewer Carey syndrome disorder

1177175008Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome disorder

401315004Smith-Magenis syndrome disorder

773623000Spigelian hernia with cryptorchidism syndrome disorder

763889002Spina bifida and hypospadias syndrome disorder

723612001Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome disorder

723610009Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome disorder

1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome disorder

723583009Steroid dehydrogenase deficiency and dental anomaly syndrome disorder

78675000Stickler syndrome disorder

1187120008Stromme syndrome disorder

783096008Subaortic stenosis and short stature syndrome disorder

1237577000Symptomatic form of Coffin-Lowry syndrome in female carrier disorder

719161008Syndromic X-linked intellectual disability due to JARID1C mutation disorder

725911008TARP syndrome disorder

1172628002TBCK-related intellectual disability syndrome disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

719945007Taurodontia with absent teeth and sparse hair syndrome disorder

716249009Tetraamelia with multiple malformation syndrome disorder

9527009Tetrasomy 12p syndrome disorder

764690001Tetrasomy 21 disorder

766755003Tetrasomy 5p syndrome disorder

733628001Thoraco-abdominal enteric duplication disorder

723555007Thymic, renal, anal, lung dysplasia syndrome disorder

1230096008Timothy syndrome disorder

771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome disorder

523411000000105Townes-Brocks syndrome disorder

733066002Trigonocephaly, short stature, developmental delay syndrome disorder

768927001Trisomy 1q syndrome disorder

719042007Uveal coloboma with cleft lip and palate and intellectual disability syndrome disorder

719043002VACTERL syndrome with hydrocephalus disorder

27742002VATER association disorder

733110004Van den Bosch syndrome disorder

431395004Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula, renal anomalies, limb defects syndrome disorder

719824001Vici syndrome disorder

47434006Waardenburg syndrome disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

766761000X-linked cleft palate and ankyloglossia disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

719811001X-linked intellectual disability Cabezas type disorder

718910006X-linked intellectual disability Stocco Dos Santos type disorder

773274001X-linked intellectual disability, craniofacioskeletal syndrome disorder

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

1162839003XK aprosencephaly syndrome disorder

733605002XY type gonadal dysgenesis with associated anomalies syndrome disorder

764711007Xq12-q13.3 duplication syndrome disorder

Multiple system malformation syndrome

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