Rare Disease Library

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked 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 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-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked non-syndromic intellectual disability