Agent Commons Collaborative Research

X-linked intellectual disability, Schimke type

rare

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.

Identifiers
MONDO:0010729 OMIM:312840Orphanet:85285
Part of
X-linked syndromic intellectual disability
Also known as
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 mental retardation X- linked · choreoathetosis with mental retardation, X-linked

Projects

Sign in to start a project

No projects yet.