Multiple malformation syndrome with facial defects as major feature

Code	`65094009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

77079400811p15.4 microduplication syndrome disorder

122988200311q22.2q22.3 microdeletion syndrome disorder

77354700313q12.3 microdeletion syndrome disorder

71904700114q11.2 microdeletion syndrome disorder

77349400814q24.1q24.3 microdeletion syndrome disorder

77147700315q overgrowth syndrome disorder

71957600916p11.2p12.2 microdeletion syndrome disorder

12288440021p35.2 microdeletion syndrome disorder

78717100621q22.11q22.12 microdeletion syndrome disorder

7707560082p13.2 microdeletion syndrome disorder

7196510002p15p16.1 microdeletion syndrome disorder

7196520072p21 microdeletion syndrome disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

7185560073C syndrome disorder

7707930025p13 microduplication syndrome disorder

7196640048q22.1 microdeletion syndrome disorder

12298950088q24.3 microdeletion syndrome disorder

12298750029q21.13 microdeletion syndrome disorder

7734930029q31.1q31.3 microdeletion syndrome disorder

766824003ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder disorder

774068004AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome None

718575002Ablepharon macrostomia syndrome disorder

715427008Acromelic frontonasal dysplasia disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

1208720000Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome disorder

722283003Agnathia, holoprosencephaly, situs inversus syndrome disorder

720982007Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome disorder

785808002Aneurysm osteoarthritis syndrome disorder

76880004Angelman syndrome disorder

783204009Ankyloblepharon filiforme adnatum with cleft palate syndrome disorder

720496006Anophthalmia plus syndrome disorder

62964007Antley-Bixler syndrome disorder

763615003Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome disorder

28599006Ascher's syndrome disorder

1345055005Asymmetric crying facies syndrome disorder

771512003Autism spectrum disorder due to AUTS2 deficiency disorder

1255319004Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

771476007Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome disorder

717940006BNAR syndrome disorder

719097002BSG syndrome disorder

1258972007Baraitser Winter cerebrofrontofacial syndrome disorder

408537003Barber-Say syndrome disorder

1187644009Basel Vanagaite Smirin Yosef syndrome disorder

717859007Beemer Ertbruggen syndrome disorder

715985008Binder syndrome disorder

717913006Blepharonasofacial malformation syndrome disorder

788584007Blepharophimosis, intellectual disability syndrome disorder

1169355000Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome disorder

1332384001CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome disorder

1179408008CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome disorder

717772000CODAS syndrome disorder

726704006Cataract, congenital heart disease, neural tube defect syndrome disorder

1237475006Cerebellar-facial-dental syndrome disorder

720635002Cerebro-facio-thoracic dysplasia disorder

763353000Cerebrofacioarticular syndrome disorder

720855003Cerebrooculonasal syndrome disorder

703534001Char syndrome disorder

720640005Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome disorder

1300132009Clark Baraitser syndrome disorder

719456001Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome disorder

1187039001Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome disorder

732247000Cleft lip retinopathy syndrome disorder

6936002Cleft lip sequence disorder

719466009Cleft palate with short stature and vertebral anomaly syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

35691006Combined deficiency of sialidase AND beta galactosidase disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

1208346003Congenital hydrocephalus, low insertion of umbilicus syndrome disorder

1172594000Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome disorder

429753001Congenital nonprogressive myopathy with Moebius and Robin sequences disorder

1300188000Congenital pontocerebellar hypoplasia type 11 disorder

1300190004Congenital pontocerebellar hypoplasia type 12 disorder

763318007Connective tissue disorder due to lysyl hydroxylase-3 deficiency disorder

720746006Contracture with ectodermal dysplasia and orofacial cleft syndrome disorder

715991005Crane Heise syndrome disorder

773622005Craniofacial dysplasia osteopenia syndrome disorder

1217229007Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome disorder

720755009Craniofacial dyssynostosis syndrome disorder

763320005Craniofaciofrontodigital syndrome disorder

715421009Craniofrontonasal dysplasia disorder

720816004Craniosynostosis and intracranial calcification syndrome disorder

720813007Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome disorder

1269224009Craniosynostosis, microretrognathia, severe intellectual disability syndrome disorder

28861008Crouzon syndrome disorder

764950001Cryptorchidism, arachnodactyly, intellectual disability syndrome disorder

732261005Cyprus facial neuromusculoskeletal syndrome disorder

768843007DNMT3A-related overgrowth syndrome disorder

1179301003DYRK1A-related intellectual disability syndrome disorder

721087008Deafness and intellectual disability Martin Probst type syndrome disorder

716245003Deafness craniofacial syndrome disorder

715524004Delayed membranous cranial ossification disorder

721089006Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome disorder

254099008Desbuquois syndrome disorder

787093004Developmental delay, facial dysmorphism syndrome due to MED13L deficiency disorder

1340176000Developmental delay, overweight, facial dysmorphism, behavioural abnormalities syndrome disorder

1217373008Diaphragmatic hernia, short bowel, asplenia syndrome disorder

766871009Diencephalic mesencephalic junction dysplasia disorder

733038005Dysmorphism, pectus carinatum, joint laxity syndrome disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

1260203008EVEN-plus syndrome disorder

773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder

1187042007Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome disorder

721208007Ectodermal dysplasia with blindness syndrome disorder

1279835008Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome disorder

771178004Edinburgh malformation syndrome disorder

720860004Ehlers-Danlos syndrome musculocontractural type disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

782949007Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome disorder

763278004Facial dysmorphism, cleft palate, loose skin syndrome disorder

763279007Facial dysmorphism, conductive hearing loss, heart defect syndrome disorder

1304114004Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

770728003Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome disorder

733417008Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome disorder

723333000Faciocardiorenal syndrome disorder

770900000Familial omphalocele syndrome with facial dysmorphism disorder

720955004Fine Lubinsky syndrome disorder

15557005First arch syndrome disorder

773750003Flat face, microstomia, ear anomaly syndrome disorder

720957007Fountain syndrome disorder

613003Fragile X syndrome disorder

720958002Frank-Ter Haar syndrome disorder

52616002Freeman-Sheldon syndrome disorder

718848000Fried syndrome disorder

86610004Frontonasal dysplasia sequence disorder

1208344000Fryns Smeets Thiry syndrome disorder

716108004Fryns macrocephaly disorder

721843003GAPO syndrome disorder

1186730002Gabriele-de Vries syndrome disorder

733037000German syndrome disorder

719687007Gingival fibromatosis with facial dysmorphism syndrome disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

717822006Goldberg Shprintzen megacolon syndrome disorder

716096005Goldblatt Wallis syndrome disorder

716022002Gollop syndrome disorder

50913002Grob's syndrome disorder

721008000Hall Riggs syndrome disorder

1197057002Hallermann Streiff like syndrome disorder

716089008Harrod syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

733046006Hemifacial hyperplasia strabismus syndrome disorder

234146006Hennekam syndrome disorder

771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome disorder

716091000Holoprosencephaly and postaxial polydactyly syndrome disorder

721836009Hypertelorism with microtia and facial clefting syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

721845005Hypomandibular faciocranial dysostosis disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

724281002Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome disorder

763722004Hypotonia, speech impairment, severe cognitive delay syndrome disorder

716097001Ichthyosis cheek eyebrow syndrome disorder

720514008Illum syndrome disorder

725906006Intellectual disability Buenos Aires type disorder

763745005Intellectual disability Wolff type disorder

1217382002Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome disorder

1186729007Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome disorder

726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome disorder

782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder

773581009Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome disorder

722454003Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome disorder

721146009Intellectual disability, epilepsy, bulbous nose syndrome disorder

1197593006Intellectual disability, expressive aphasia, facial dysmorphism syndrome disorder

782736007Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency disorder

773552008Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome disorder

773621003Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome disorder

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome disorder

1208746001Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome disorder

763350002Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome disorder

774102003Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome disorder

1177167002Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

770750002Intellectual disability, seizures, macrocephaly, obesity syndrome disorder

774203000Intellectual disability, severe speech delay, mild dysmorphism syndrome disorder

771077007Intellectual disability, short stature, hypertelorism syndrome disorder

1373748007Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome disorder

722006004Isotretinoin-like syndrome disorder

721875000Juberg Marsidi syndrome disorder

313426007Kabuki make-up syndrome disorder

770907002Kagami Ogata syndrome disorder

722031003Kapur Toriello syndrome disorder

716112005Kawashima Tsuji syndrome disorder

1220589007Keppen Lubinsky syndrome disorder

764957003King Denborough syndrome disorder

724207001Kleefstra syndrome disorder

1217225001Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome disorder

717338006Koolen De Vries syndrome disorder

1172898008Kosaki overgrowth syndrome disorder

1251453008Lamb Shaffer syndrome disorder

763778003Larsen-like syndrome B3GAT3 type disorder

111307005Leprechaunism syndrome disorder

1229876001Lethal brain and heart developmental defects syndrome disorder

1237470001Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome disorder

778026007Lethal polymalformative syndrome Boissel type disorder

721978002Lymphoedema, atrial septal defect, facial changes syndrome disorder

1351843001Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome disorder

763773007Macrocephaly and developmental delay syndrome disorder

783089006Macrocephaly, intellectual disability, autism syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

1187304005Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome disorder

722033000Macrocephaly, short stature, paraplegia syndrome disorder

763795006Malan overgrowth syndrome disorder

719398004Malignant hyperthermia with arthrogryposis and torticollis syndrome disorder

773406003Mandibular hypoplasia, deafness, progeroid syndrome disorder

1216943004Mandibulofacial dysostosis with alopecia disorder

711543008Mandibulofacial dysostosis with microcephaly disorder

773557002Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome disorder

449824004Marden Walker syndrome disorder

733062000Marfanoid habitus with autosomal recessive intellectual disability syndrome disorder

1303865002Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome disorder

782780007Marfanoid habitus, inguinal hernia, advanced bone age syndrome disorder

33410002Marshall syndrome disorder

73284007Marshall-Smith syndrome disorder

715441004McDonough syndrome disorder

700063005Megalencephaly capillary malformation disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

716199000Mehes syndrome disorder

290006Melnick-Fraser syndrome disorder

13449007Melnick-Needles syndrome disorder

1260095004Menke Hennekam syndrome disorder

1179283004Metopic ridging, ptosis, facial dysmorphism syndrome disorder

723403008Microbrachycephaly, ptosis, cleft lip syndrome disorder

723404002Microcephalic osteodysplastic dysplasia Saul Wilson type disorder

770564004Microcephalic primordial dwarfism Alazami type disorder

770565003Microcephalic primordial dwarfism Dauber type disorder

765758008Microcephalic primordial dwarfism Montreal type disorder

719394002Microcephalus cleft palate syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

715462003Microcephaly with cervical spine fusion anomaly disorder

1167375003Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome disorder

1254650002Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome disorder

1279889005Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome disorder

721903007Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome disorder

771074000Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder

773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder

23359005Multiple malformation syndrome with facial-limb defects as major feature disorder

699316006Myhre syndrome disorder

723410002N syndrome disorder

763839005Neonatal Marfan syndrome disorder

77817004Neu-Laxova syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

1237228009Night blindness, skeletal anomalies, dysmorphism syndrome disorder

766753005Nijmegen breakage syndrome-like disorder disorder

783143001Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia disorder

1010685005Oculo-auriculo-vertebral spectrum disorder

205802006Oculo-palato-digital syndrome disorder

1255268002Oculocerebrodental syndrome disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

763830009Oculomaxillofacial dysostosis disorder

722117000Osteosclerosis, developmental delay, craniosynostosis syndrome disorder

48180002Otocephalic syndrome disorder

763860004Otofaciocervical syndrome disorder

722122000Overgrowth, macrocephaly, facial dysmorphism syndrome disorder

1169363004Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome disorder

1367655003PAICS deficiency disorder disorder

1208987006PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome disorder

1237421000PYCR2-related microcephaly, progressive leucoencephalopathy disorder

1172889005Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome disorder

719020006Pallister W syndrome disorder

722231005Perlman syndrome disorder

724067006Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome disorder

719139003Pettigrew syndrome disorder

1220594007Pierpont syndrome disorder

771013004Pilotto syndrome disorder

1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder

723448007Polyvalvular heart disease syndrome disorder

702346005Potocki-Shaffer syndrome disorder

770680004Prader-Willi-like syndrome disorder

773644000Progeroid and marfanoid aspect, lipodystrophy syndrome disorder

1260130005Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome disorder

733086003Pseudoprogeria syndrome disorder

724016008Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome disorder

721887007Puerto Rican infant hypotonia syndrome disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

783099001RIDDLE syndrome disorder

723504000Ramos Arroyo syndrome disorder

1220597000Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome disorder

4602007Robin sequence disorder

773404000Roifman syndrome disorder

715986009Rozin Hertz Goodman syndrome disorder

1208488006SATB2-associated syndrome disorder

734173003SCARF syndrome disorder

1300198006SMARCA2-related blepharophimosis, intellectual disability syndrome disorder

1187041000STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome disorder

1197148005Sanjad Sakati syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

720853005Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome disorder

1208727002Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome disorder

773551001Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome disorder

782723007Severe intellectual disability, progressive spastic diplegia syndrome disorder

773419004Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome disorder

783005002Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome disorder

770751003Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome disorder

719213009Short stature Brussels type disorder

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

726672000Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome disorder

721075001Short tarsus with absence of lower eyelashes syndrome disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

716230005Shprintzen Goldberg omphalocele syndrome disorder

439143004Simpson-Golabi-Behmel syndrome disorder

707609006Solitary median maxillary central incisor syndrome disorder

715987000Sonoda syndrome disorder

773303005Spondyloepimetaphyseal dysplasia Genevieve type disorder

782913006Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome disorder

1197589000Steel syndrome disorder

783097004Stickler syndrome type 3 disorder

733072002Stimmler syndrome disorder

718900002Syndromic X-linked intellectual disability type 11 disorder

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

717337001Syndromic orbital border hypoplasia disorder

773554009THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome disorder

1222708006TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome disorder

1169359006Tall stature, intellectual disability, renal anomalies syndrome disorder

771265006Teebi Shaltout syndrome disorder

778012003Temple syndrome disorder

719947004Temtamy syndrome disorder

10567003Tetrasomy X syndrome disorder

773281008Thakker Donnai syndrome disorder

722476007Thickened earlobe with conductive deafness syndrome disorder

783004003Thin ribs, tubular bones, dysmorphism syndrome disorder

716740009Thomas syndrome disorder

722477003Toriello Carey syndrome disorder

82203000Treacher Collins syndrome disorder

1285322008Triopia disorder

717049005Trisomy 17p disorder

719845008Van den Ende-Gupta syndrome disorder

79261008Van der Woude syndrome disorder

763616002Velofacioskeletal syndrome disorder

719833004Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome disorder

1187247007WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome disorder

726670008Weaver Williams syndrome disorder

715988005Wellesley Carman French syndrome disorder

763619009White forelock with malformations syndrome disorder

783703004White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome disorder

763618001Wiedemann Steiner syndrome disorder

63247009Williams syndrome disorder

719834005Wilson Turner syndrome disorder

254151006Winchester syndrome disorder

1187122000Witteveen Kolk syndrome disorder

718226002Wolf Hirschhorn syndrome disorder

1167372000X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome disorder

1172697000X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability disorder

726732002X-linked intellectual disability Nascimento type disorder

718897009X-linked intellectual disability Seemanova type disorder

718908009X-linked intellectual disability Siderius type disorder

718911005X-linked intellectual disability Stoll type disorder

719155005X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome disorder

719157002X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome disorder

783702009X-linked intellectual disability due to GRIA3 mutations disorder

1156584007X-linked intellectual disability hypotonic face syndrome disorder

719156006X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome disorder

422437002X-linked intellectual disability with marfanoid habitus disorder

719812008X-linked intellectual disability with plagiocephaly syndrome disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

1237420004X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

773418007XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation disorder

1229872004Xq25 microduplication syndrome disorder

59252009de Barsey syndrome disorder

Multiple malformation syndrome with facial defects as major feature

Parents (2)

Children (366)