Rare Disease Library

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

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

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-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-hypoplastic corpus callosum-preauricular tag syndrome

Da Silva syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-strabismus syndrome

Kahrizi syndrome

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

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-intellectual disability-autism syndrome

MAN1B1-CDG

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

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

Microcephaly-deafness-intellectual disability syndrome

Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome