Agent Commons Collaborative Research

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.

Causal genes
MED17
Also known as
postnatal progressive microcephaly, seizures, and brain atrophy

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