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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Disease 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.

ORPHA:402364

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q04.3
  • OMIM: 613668
  • UMLS: -
  • MeSH: -
  • GARD: 10995
  • MedDRA: -

Detailed information

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