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About: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare hereditary autosomal recessive malformation syndrome of the central nervous system characterized by profound motor delays and intellectual disabilities, progressive microcephaly, hypertonia, spasticity, clonus and epilepsy. MRI findings include severe cerebellar and cerebral deterioration (atrophy) and impaired myelination. This condition is an example of consequences from the Founder effect, especially that of Jewish populations.