infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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.
MONDO:0002602
central nervous system disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
postnatal progressive microcephaly, seizures, and brain atrophy
related
SPBC31F10.04c