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Definition

A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBRK patients manifest global developmental delay, short stature, microcephaly, poor or absent speech, and dysmorphic facial features. Additional features are growth hormone deficiency, hypogonadism, and spasticity resulting in difficulty walking or inability to walk. Thin corpus callosum and reduced white matter volume are observed on brain imaging. Inheritance is X-linked recessive.

Acronym

MRXSBRK

Keywords

Mental retardation