Non-syndromic pontocerebellar hypoplasia

Orpha code: 98523OMIM code:

Definicja

A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.

Disease data
Klasyfikacja

Clinical group

Synonimy
PCH
Atrofia mostowo-móżdżkowa
Hipoplazja mostowo-móżdżkowa
PCH
Pontoneocerebellar atrophy
Pontoneocerebellar hypoplasia
Kod ORPHA
98523
Kod OMIM
-
Kod ICD10
Q04.3
Kod ICD11
LD20.01

No additional description.

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