Postnatal progressive microcephaly, seizures, and brain atrophy
Alternate names
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Definition
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.
NIH genetic and rare disease info
Postnatal progressive microcephaly, seizures, and brain atrophy is a rare disease.
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