Agent Commons Collaborative Research

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

rare
Identifiers
MONDO:0015159 Orphanet:102283
Part of
Multiple congenital anomalies/dysmorphic syndrome
Also known as
MCA/MR · multiple congenital anomalies-intellectual disability with or without dysmorphism

Subtypes

All diseases Rare only
Disease Subtypes
Holoprosencephaly 20
Coffin-Siris syndrome 12
Blepharophimosis - intellectual disability syndrome 7
Cornelia de Lange syndrome 6
Kleefstra syndrome 4
Pitt-Hopkins or Pitt-Hopkins-like syndrome 4
Ritscher-Schinzel syndrome 4
Rubinstein-Taybi syndrome 4
Warburg micro syndrome 4
Cardiofaciocutaneous syndrome 4
Multiple congenital anomalies-hypotonia-seizures syndrome 4
3MC syndrome 3
Hennekam syndrome 3
Neu-Laxova syndrome 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 3
15q overgrowth syndrome 2
Baraitser-Winter cerebrofrontofacial syndrome 2
DYRK1A-related intellectual disability syndrome 2
DeSanto-Shinawi syndrome 2
Kabuki syndrome 2
Koolen-de Vries syndrome 2
Mowat-Wilson syndrome 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2
Chromosome 19q13.11 deletion syndrome 2
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 2
Syndromic X-linked intellectual disability Lubs type 2
Van Maldergem syndrome 2
Opitz G/BBB syndrome 1
SIN3A-related intellectual disability syndrome 1
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 1
Cleft palate-congenital heart defect-intellectual disability syndrome 1
Lethal multiple pterygium syndrome 1
10p13-p14 deletion syndrome
11p15.4 microduplication syndrome
11q22.2q22.3 microdeletion syndrome
13q12.3 microdeletion syndrome
14q24.1q24.3 microdeletion syndrome
16p12.1p12.3 triplication syndrome
19p13.3 microduplication syndrome
1p35.2 microdeletion syndrome
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
2p13.2 microdeletion syndrome
2q13 microdeletion syndrome
3q26q28 deletion syndrome
3q27.3 microdeletion syndrome
5q14.3 microdeletion syndrome
7p22.1 microduplication syndrome
8q24.3 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AICA-ribosiduria
Ayme-Gripp syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baralle-Macken syndrome
Biemond syndrome type 2
Bohring-Opitz syndrome
Bonnemann-Meinecke-Reich syndrome
Bowen-Conradi syndrome
C syndrome
CHIME syndrome
CTCF-related neurodevelopmental disorder
Catel-Manzke syndrome
Cohen syndrome
Costello syndrome
Dubowitz syndrome
Elsahy-Waters syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Filippi syndrome
Fine-Lubinsky syndrome
Floating-Harbor syndrome
Fryns syndrome
GAPO syndrome
Gabriele de Vries syndrome
Goldberg-Shprintzen syndrome
Hall-Riggs syndrome
Harrod syndrome
Hartsfield-Bixler-Demyer syndrome
Hernández-Aguirre Negrete syndrome
Houge-Janssens syndrome 1
Houge-Janssens syndrome 2
Jawad syndrome
Johanson-Blizzard syndrome
Johnson neuroectodermal syndrome
KAT6B-related multiple congenital anomalies syndrome
KBG syndrome
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Kapur-Toriello syndrome
Keutel syndrome
Lambert syndrome
Laurence-Moon syndrome
Lenz-Majewski hyperostotic dwarfism
Lowry-MacLean syndrome
MMEP syndrome
Marden-Walker syndrome
Martsolf syndrome 1
McDonough syndrome
Myhre syndrome
N syndrome
Oliver syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PRC-2 complex-related overgrowth spectrum
Peters plus syndrome
Pfeiffer-Palm-Teller syndrome
Pierpont syndrome
Pilarowski-Bjornsson syndrome
Ramos-Arroyo syndrome
SLC39A8-CDG
SSR4-congenital disorder of glycosylation
Say-Barber-Miller syndrome
Schuurs-Hoeijmakers syndrome
Shprintzen-Goldberg syndrome
Skraban-Deardorff syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Stimmler syndrome
Stromme syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Takenouchi-Kosaki syndrome
Tatton-Brown-Rahman overgrowth syndrome
Ulbright-Hodes syndrome
Weaver syndrome
Weaver-Williams syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Wolf-Hirschhorn syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-short stature-overweight syndrome
XYLT1-congenital disorder of glycosylation
Xp22.13p22.2 duplication syndrome
ZTTK syndrome
Zechi-Ceide syndrome
Acrocallosal syndrome
Acrocardiofacial syndrome
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis, Catania type
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Agnathia-otocephaly complex
Anencephaly 1
Aniridia-renal agenesis-psychomotor retardation syndrome
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Ataxia-photosensitivity-short stature syndrome
Autism spectrum disorder due to AUTS2 deficiency
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal recessive spinocerebellar ataxia 20
Bird headed-dwarfism, Montreal type
Blepharonasofacial malformation syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Camptodactyly syndrome, Guadalajara type 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiocranial syndrome, Pfeiffer type
Cataract-deafness-hypogonadism syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Caudal appendage-deafness syndrome
Cerebellar-facial-dental syndrome
Cerebrooculonasal syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Chromosome 15q13.3 microdeletion syndrome
Chromosome 15q24 deletion syndrome
Chromosome 16q22 deletion syndrome
Chromosome 17p13.3 duplication syndrome
Chromosome 17q21.31 duplication syndrome
Chromosome 19p13.13 deletion syndrome
Chromosome 5p13 duplication syndrome
Chromosome 5q12 deletion syndrome
Chromosome 6pter-p24 deletion syndrome
Chromosome 8q21.11 deletion syndrome
Chromosome Xp11.23-p11.22 duplication syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
Complex cortical dysplasia with other brain malformations 7
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital heart defect-round face-developmental delay syndrome
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Cono-spondylar dysplasia
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Craniodigital syndrome-intellectual disability syndrome
Craniofaciofrontodigital syndrome
Creatine transporter deficiency
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Developmental and epileptic encephalopathy, 18
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 73
Distal 17p13.1 microdeletion syndrome
Dysmorphism-short stature-deafness-disorder of sex development syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Epilepsy-microcephaly-skeletal dysplasia syndrome
Epilepsy-telangiectasia syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Faciocardiorenal syndrome
Fallot complex-intellectual disability-growth delay syndrome
Fountain syndrome
Genitopatellar syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Glycosylphosphatidylinositol biosynthesis defect 15
Hirsutism-skeletal dysplasia-intellectual disability syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Hypertelorism, microtia, facial clefting syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotonia, ataxia, and delayed development syndrome
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Intellectual disability, Buenos-Aires type
Intellectual disability, Wolff type
Intellectual disability, X-linked, syndromic 33
Intellectual disability, autosomal dominant 47
Intellectual disability, autosomal dominant 48
Intellectual disability-balding-patella luxation-acromicria syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Intellectual disability-polydactyly-uncombable hair syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Intellectual disability-short stature-hypertelorism syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Lethal omphalocele-cleft palate syndrome
Leukodystrophy, hypomyelinating, 10
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Microbrachycephaly-ptosis-cleft lip syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Microcephaly-cardiomyopathy syndrome
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Microcephaly-cervical spine fusion anomalies syndrome
Microcephaly-cleft palate syndrome
Microcephaly-deafness-intellectual disability syndrome
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microcephaly-microcornea syndrome, Seemanova type
Microcephaly-seizures-intellectual disability-heart disease syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Microtriplication 11q24.1
Mucopolysaccharidosis-plus syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neuroectodermal-endocrine syndrome
Neurofaciodigitorenal syndrome
Oculo-palato-cerebral syndrome
Oculocerebrodental syndrome
Oculocerebrofacial syndrome, Kaufman type
Omphalocele syndrome, Shprintzen-Goldberg type
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Orofaciodigital syndrome type 14
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pancreatic agenesis-holoprosencephaly syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Prominent glabella-microcephaly-hypogenitalism syndrome
Pseudoaminopterin syndrome
Pseudoprogeria syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome
Ptosis-syndactyly-learning difficulties syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short stature-webbed neck-heart disease syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Syndromic X-linked intellectual disability 34
Syndromic X-linked intellectual disability 5
Syndromic X-linked intellectual disability 7
Syndromic X-linked intellectual disability Abidi type
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Shashi type
Syndromic X-linked intellectual disability Siderius type
Syndromic multisystem autoimmune disease due to ITCH deficiency
Tall stature-intellectual disability-renal anomalies syndrome
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Temtamy syndrome
Transketolase deficiency
Trichorhinophalangeal syndrome type II
Upper limb defect-eye and ear abnormalities syndrome
Urban-Rogers-Meyer syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.