Rare Disease Library

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

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

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

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller 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

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

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

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

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose 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

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-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-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-epilepsy-extrapyramidal syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

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-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Intellectual disability-short stature-hypertelorism syndrome

Stoll-Géraudel-Chauvin syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-strabismus syndrome

Intellectual disability, Buenos-Aires type

Mutchinick syndrome

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

KDM5C-related syndromic X-linked intellectual disability

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

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