Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Orpha code: 402364OMIM code: 613668

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.

Disease data
Classification

Malformation syndrome

ORPHA code
402364
OMIM code
613668
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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