Rare Disease Library

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

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

SHILCA syndrome

Ulna hypoplasia-intellectual disability syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

Woodhouse-Sakati syndrome

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

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

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