Rare Disease Library

KDM5C-related syndromic X-linked intellectual disability

Lipodystrophy-intellectual disability-deafness syndrome

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

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

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-deafness-intellectual disability syndrome

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

Mietens syndrome

Intellectual disability, Mietens-Weber type

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

Non-progressive cerebellar ataxia with intellectual disability

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

OBSOLETE: X-linked intellectual disability, Martinez type

OBSOLETE: X-linked intellectual disability, Raynaud type

OBSOLETE: X-linked intellectual disability, Schutz type

OBSOLETE: X-linked intellectual disability, Wittner type

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Rare genetic intellectual disability

Rare genetic syndromic intellectual disability

Rare intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Uveal coloboma-cleft lip and palate-intellectual disability

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked intellectual disability due to GRIA3 mutations