Rare Disease Library

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome

SHILCA 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

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 intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas 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-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked non-syndromic intellectual disability

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome