/microcephaly-thin corpus callosum-intellectual disability syndrome

microcephaly-thin corpus callosum-intellectual disability syndrome

Rare Disease

MONDO:0014273

Also Known As

intellectual developmental disorder, autosomal recessive 40intellectual disability, autosomal recessive type 40mental retardation, autosomal recessive type 40microcephaly-thin corpus callosum-intellectual disability syndromeMRT40intellectual disability, autosomal recessive 40mental retardation, autosomal recessive 40

Definition

Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.