Pontocerebellar Hypoplasia, Type 2B

Alternative Names

  • PCH2B
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

612389

Gene Map Locus

3p25.2

Description

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612389.1LebanonUnknownYes Cerebellar hypoplasia; Hypoplasia of the... NM_025265.4:c.1333G>AHomozygousAutosomal, RecessiveJalkh et al. 2019
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