Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Orpha code: 402364OMIM code: 613668

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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