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X-Linked Intellectual Disability, Schimke Type (MONDO:0010729)

Open Trait in OLS

X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:11869

Synonyms

Schimke X-linked intellectual disability syndrome

Schimke X-linked mental retardation syndrome

childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness

childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness

choreoathetosis with intellectual disability X- linked

choreoathetosis with intellectual disability, X-linked

choreoathetosis with mental retardation X- linked

choreoathetosis with mental retardation, X-linked

progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Mapped terms

GARD:0009288

MEDGEN:374193

MESH:C536630

OMIM:312840

Orphanet:85285

SCTID:719010001

UMLS:C1839320

Child terms

Unknown children.