Rare Disease Library

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

CHD8 overgrowth syndrome

Chromodomain helicase DNA binding protein 8 overgrowth syndrome · CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

Cortical blindness-intellectual disability-polydactyly syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Intellectual disability-balding-patella luxation-acromicria syndrome

Scholte-Begeer-van Essen syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Intellectual disability-strabismus syndrome

KDM5C-related syndromic X-linked intellectual disability

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Fragoso-Cantú syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome