Rare Disease Library

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

MYT1L-related developmental delay-intellectual disability-obesity syndrome

MYT1L-associated neurodevelopmental disorder

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

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

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Paraplegia-intellectual disability-hyperkeratosis syndrome

Fitzsimmons-McLachlan-Gilbert syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Proximal Xq28 duplication syndrome

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

Rare genetic syndromic intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

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

IQSEC2-related syndromic intellectual disability

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked non-syndromic intellectual disability