Rare Disease Library

OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome

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

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction 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

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

Partington syndrome

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

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Proximal Xq28 duplication syndrome

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

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Ramos-Arroyo syndrome

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

Rare genetic syndromic intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Renpenning syndrome

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

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome

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

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

SMARCA2-related blepharophimosis-intellectual disability 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

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

Wilson-Turner syndrome

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

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome