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Up to: Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 trial tagged with this condition →

Costello syndrome 7 trials
Cardiofaciocutaneous syndrome 7 trials Sub-types →
Smith-Lemli-Opitz syndrome 6 trials
Creatine transporter deficiency 6 trials
Smith-Magenis syndrome 5 trials
Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
Rubinstein-Taybi syndrome 3 trials Sub-types →
Syndromic X-linked intellectual disability Lubs type 3 trials Sub-types →
Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types Sub-types →
KBG syndrome 2 trials
Kabuki syndrome 2 trials Sub-types →
Mowat-Wilson syndrome 2 trials Sub-types →
Acrocallosal syndrome 2 trials
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
AICA-ribosiduria 1 trial
Bannayan-Riley-Ruvalcaba syndrome 1 trial
Bohring-Opitz syndrome 1 trial
Coffin-Siris syndrome 1 trial Sub-types →
Cohen syndrome 1 trial
Fryns syndrome 1 trial
Koolen-de Vries syndrome 1 trial Sub-types →
MMEP syndrome 1 trial
Schuurs-Hoeijmakers syndrome 1 trial
Shprintzen-Goldberg syndrome 1 trial
Autism spectrum disorder due to AUTS2 deficiency 1 trial
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
Chromosome 15q13.3 microdeletion syndrome 1 trial
Chromosome 15q24 deletion syndrome 1 trial
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
Pseudoaminopterin syndrome 1 trial
Syndromic X-linked intellectual disability 5 1 trial
Trichorhinophalangeal syndrome type II 1 trial
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 0 trials · 1 incl. sub-types Sub-types →
10p13-p14 deletion syndrome 0 trials
11p15.4 microduplication syndrome 0 trials
11q22.2q22.3 microdeletion syndrome 0 trials
13q12.3 microdeletion syndrome 0 trials
14q24.1q24.3 microdeletion syndrome 0 trials
15q overgrowth syndrome 0 trials Sub-types →
16p12.1p12.3 triplication syndrome 0 trials
19p13.3 microduplication syndrome 0 trials
1p35.2 microdeletion syndrome 0 trials
20p13 microdeletion syndrome 0 trials
20q11.2 microdeletion syndrome 0 trials
20q11.2 microduplication syndrome 0 trials
2p13.2 microdeletion syndrome 0 trials
2q13 microdeletion syndrome 0 trials
3MC syndrome 0 trials Sub-types →
3q26q28 deletion syndrome 0 trials
3q27.3 microdeletion syndrome 0 trials
5q14.3 microdeletion syndrome 0 trials
7p22.1 microduplication syndrome 0 trials
8q24.3 microdeletion syndrome 0 trials
9q31.1q31.3 microdeletion syndrome 0 trials
9q33.3q34.11 microdeletion syndrome 0 trials
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
Ayme-Gripp syndrome 0 trials
Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
Biemond syndrome type 2 0 trials
Bonnemann-Meinecke-Reich syndrome 0 trials
Bowen-Conradi syndrome 0 trials
C syndrome 0 trials
CHIME syndrome 0 trials
CTCF-related neurodevelopmental disorder 0 trials
Catel-Manzke syndrome 0 trials
DYRK1A-related intellectual disability syndrome 0 trials Sub-types →
DeSanto-Shinawi syndrome 0 trials Sub-types →
Dubowitz syndrome 0 trials
Elsahy-Waters syndrome 0 trials
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 0 trials
Filippi syndrome 0 trials
Fine-Lubinsky syndrome 0 trials
Floating-Harbor syndrome 0 trials
GAPO syndrome 0 trials
Gabriele de Vries syndrome 0 trials
Goldberg-Shprintzen syndrome 0 trials
Hall-Riggs syndrome 0 trials
Harrod syndrome 0 trials
Hartsfield-Bixler-Demyer syndrome 0 trials
Hennekam syndrome 0 trials Sub-types →
Hernández-Aguirre Negrete syndrome 0 trials
Houge-Janssens syndrome 1 0 trials
Houge-Janssens syndrome 2 0 trials
Jawad syndrome 0 trials
Johanson-Blizzard syndrome 0 trials
Johnson neuroectodermal syndrome 0 trials
KAT6B-related multiple congenital anomalies syndrome 0 trials
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 0 trials
Kapur-Toriello syndrome 0 trials
Keutel syndrome 0 trials
Kleefstra syndrome 0 trials Sub-types →
Lambert syndrome 0 trials
Laurence-Moon syndrome 0 trials
Lenz-Majewski hyperostotic dwarfism 0 trials
Lowry-MacLean syndrome 0 trials
Marden-Walker syndrome 0 trials
Martsolf syndrome 1 0 trials
McDonough syndrome 0 trials
Myhre syndrome 0 trials
N syndrome 0 trials
Neu-Laxova syndrome 0 trials Sub-types →
Oliver syndrome 0 trials
Opitz G/BBB syndrome 0 trials Sub-types →
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
PRC-2 complex-related overgrowth spectrum 0 trials
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials Sub-types →
Peters plus syndrome 0 trials
Pfeiffer-Palm-Teller syndrome 0 trials
Pierpont syndrome 0 trials
Pilarowski-Bjornsson syndrome 0 trials
Ramos-Arroyo syndrome 0 trials
Ritscher-Schinzel syndrome 0 trials Sub-types →
SIN3A-related intellectual disability syndrome 0 trials Sub-types →
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 0 trials Sub-types →
SLC39A8-CDG 0 trials
SSR4-congenital disorder of glycosylation 0 trials
Say-Barber-Miller syndrome 0 trials
Skraban-Deardorff syndrome 0 trials
Stimmler syndrome 0 trials
Stromme syndrome 0 trials
TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
Tatton-Brown-Rahman overgrowth syndrome 0 trials
Ulbright-Hodes syndrome 0 trials
Warburg micro syndrome 0 trials Sub-types →
Weaver syndrome 0 trials
Weaver-Williams syndrome 0 trials
Wiedemann-Rautenstrauch syndrome 0 trials
Wiedemann-Steiner syndrome 0 trials
Wolf-Hirschhorn syndrome 0 trials
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
X-linked intellectual disability with marfanoid habitus 0 trials
X-linked intellectual disability, Cabezas type 0 trials
X-linked intellectual disability, Pai type 0 trials
X-linked intellectual disability, Stevenson type 0 trials
X-linked intellectual disability, Stoll type 0 trials
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
X-linked intellectual disability-plagiocephaly syndrome 0 trials
X-linked intellectual disability-short stature-overweight syndrome 0 trials
XYLT1-congenital disorder of glycosylation 0 trials
Xp22.13p22.2 duplication syndrome 0 trials
ZTTK syndrome 0 trials
Zechi-Ceide syndrome 0 trials
Acrocardiofacial syndrome 0 trials
Acrofacial dysostosis Rodriguez type 0 trials
Acrofacial dysostosis, Catania type 0 trials
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
Agnathia-otocephaly complex 0 trials
Anencephaly 1 0 trials
Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 0 trials
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 0 trials
Arachnodactyly-abnormal ossification-intellectual disability syndrome 0 trials
Ataxia-photosensitivity-short stature syndrome 0 trials
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
Autosomal recessive spinocerebellar ataxia 20 0 trials
Bird headed-dwarfism, Montreal type 0 trials
Blepharonasofacial malformation syndrome 0 trials
Blepharophimosis - intellectual disability syndrome 0 trials Sub-types →
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 0 trials
Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
Brain malformation-congenital heart disease-postaxial polydactyly syndrome 0 trials
Camptodactyly syndrome, Guadalajara type 3 0 trials
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
Cardiocranial syndrome, Pfeiffer type 0 trials
Cataract-deafness-hypogonadism syndrome 0 trials
Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
Caudal appendage-deafness syndrome 0 trials
Cerebellar-facial-dental syndrome 0 trials
Cerebrooculonasal syndrome 0 trials
Chromosome 16q22 deletion syndrome 0 trials
Chromosome 17p13.3 duplication syndrome 0 trials
Chromosome 17q21.31 duplication syndrome 0 trials
Chromosome 19p13.13 deletion syndrome 0 trials
Chromosome 19q13.11 deletion syndrome 0 trials Sub-types →
Chromosome 5p13 duplication syndrome 0 trials
Chromosome 5q12 deletion syndrome 0 trials
Chromosome 6pter-p24 deletion syndrome 0 trials
Chromosome 8q21.11 deletion syndrome 0 trials
Chromosome Xp11.23-p11.22 duplication syndrome 0 trials
Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials Sub-types →
Cleft palate-short stature-vertebral anomalies syndrome 0 trials
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 0 trials
Complex cortical dysplasia with other brain malformations 7 0 trials
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
Congenital heart defect-round face-developmental delay syndrome 0 trials
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
Cono-spondylar dysplasia 0 trials
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 0 trials
Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
Craniodigital syndrome-intellectual disability syndrome 0 trials
Craniofaciofrontodigital syndrome 0 trials
Cryptorchidism-arachnodactyly-intellectual disability syndrome 0 trials
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 0 trials
Developmental and epileptic encephalopathy, 18 0 trials
Developmental and epileptic encephalopathy, 23 0 trials
Developmental and epileptic encephalopathy, 73 0 trials
Distal 17p13.1 microdeletion syndrome 0 trials
Dysmorphism-short stature-deafness-disorder of sex development syndrome 0 trials
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
Epilepsy-microcephaly-skeletal dysplasia syndrome 0 trials
Epilepsy-telangiectasia syndrome 0 trials
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 0 trials
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
Facial dysmorphism-shawl scrotum-joint laxity syndrome 0 trials
Faciocardiorenal syndrome 0 trials
Fallot complex-intellectual disability-growth delay syndrome 0 trials
Fountain syndrome 0 trials
Genitopatellar syndrome 0 trials
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
Hirsutism-skeletal dysplasia-intellectual disability syndrome 0 trials
Holoprosencephaly 0 trials Sub-types →
Holoprosencephaly-postaxial polydactyly syndrome 0 trials
Holoprosencephaly-radial heart renal anomalies syndrome 0 trials
Hypertelorism, microtia, facial clefting syndrome 0 trials
Hypomyelinating leukodystrophy 10 0 trials
Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
Hypotonia, ataxia, and delayed development syndrome 0 trials
Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials Sub-types →
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
Intellectual disability, Buenos-Aires type 0 trials
Intellectual disability, Wolff type 0 trials
Intellectual disability, X-linked, syndromic 33 0 trials
Intellectual disability, autosomal dominant 47 0 trials
Intellectual disability, autosomal dominant 48 0 trials
Intellectual disability-balding-patella luxation-acromicria syndrome 0 trials
Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 0 trials
Intellectual disability-early-onset cataract-microcephaly syndrome 0 trials
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome 0 trials
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
Intellectual disability-facial dysmorphism-hand anomalies syndrome 0 trials
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 0 trials
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 0 trials
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 0 trials
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 0 trials
Intellectual disability-polydactyly-uncombable hair syndrome 0 trials
Intellectual disability-seizures-macrocephaly-obesity syndrome 0 trials
Intellectual disability-short stature-hypertelorism syndrome 0 trials
Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
Lethal multiple pterygium syndrome 0 trials Sub-types →
Lethal omphalocele-cleft palate syndrome 0 trials
Macrocephaly-developmental delay syndrome 0 trials
Macrocephaly-short stature-paraplegia syndrome 0 trials
Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 0 trials
Mandibulofacial dysostosis-microcephaly syndrome 0 trials
Marfanoid habitus-autosomal recessive intellectual disability syndrome 0 trials
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
Microbrachycephaly-ptosis-cleft lip syndrome 0 trials
Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
Microcephaly-cardiomyopathy syndrome 0 trials
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 0 trials
Microcephaly-cervical spine fusion anomalies syndrome 0 trials
Microcephaly-cleft palate syndrome 0 trials
Microcephaly-deafness-intellectual disability syndrome 0 trials
Microcephaly-glomerulonephritis-marfanoid habitus syndrome 0 trials
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 0 trials
Microcephaly-microcornea syndrome, Seemanova type 0 trials
Microcephaly-seizures-intellectual disability-heart disease syndrome 0 trials
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 0 trials
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
Microtriplication 11q24.1 0 trials
Mucopolysaccharidosis-plus syndrome 0 trials
Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials Sub-types →
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 0 trials
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials Sub-types →
Neuroectodermal-endocrine syndrome 0 trials
Neurofaciodigitorenal syndrome 0 trials
Oculo-palato-cerebral syndrome 0 trials
Oculocerebrodental syndrome 0 trials
Oculocerebrofacial syndrome, Kaufman type 0 trials
Omphalocele syndrome, Shprintzen-Goldberg type 0 trials
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 0 trials
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
Orofaciodigital syndrome type 14 0 trials
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 0 trials
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
Pancreatic agenesis-holoprosencephaly syndrome 0 trials
Preaxial polydactyly-colobomata-intellectual disability syndrome 0 trials
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 trials
Prominent glabella-microcephaly-hypogenitalism syndrome 0 trials
Pseudoprogeria syndrome 0 trials
Pterygium colli-intellectual disability-digital anomalies syndrome 0 trials
Ptosis-syndactyly-learning difficulties syndrome 0 trials
Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 0 trials
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 trials
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 0 trials
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
Short stature-webbed neck-heart disease syndrome 0 trials
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 0 trials
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
Syndromic X-linked intellectual disability 34 0 trials
Syndromic X-linked intellectual disability 7 0 trials
Syndromic X-linked intellectual disability Abidi type 0 trials
Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
Syndromic X-linked intellectual disability Shashi type 0 trials
Syndromic X-linked intellectual disability Siderius type 0 trials
Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
Tall stature-intellectual disability-renal anomalies syndrome 0 trials
Telecanthus-hypertelorism-strabismus-pes cavus syndrome 0 trials
Temtamy syndrome 0 trials
Transketolase deficiency 0 trials
Upper limb defect-eye and ear abnormalities syndrome 0 trials
Urban-Rogers-Meyer syndrome 0 trials
Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
Van Maldergem syndrome 0 trials Sub-types →
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 0 trials