Non-syndromic pontocerebellar hypoplasia

Orpha code: 98523OMIM code:

Definition

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
Classification

Clinical group

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl