Rare Disease Library

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

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

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Digital anomalies-intellectual disability-short stature syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

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

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Feingold syndrome

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

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

GNB5-related intellectual disability-cardiac arrhythmia syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Growth delay-intellectual disability-hepatopathy syndrome

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

HSD10 disease, atypical type

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

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Jagell-Holmgren-Hofer syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Pilarowski-Bjornsson syndrome

Intellectual disability-balding-patella luxation-acromicria syndrome

Scholte-Begeer-van Essen syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome