pontocerebellar hypoplasia
PCH
exact
isolated pontocerebellar hypoplasia
narrow
nonsyndromic pontocerebellar hypoplasia
narrow
pontocerebellar hypoplasia
exact
pontoneocerebellar atrophy
exact
pontoneocerebllar hypoplasia
exact
Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
SPAC57A10.03 SPAC3G6.10c SPAC959.10 SPAC22A12.12c SPBC428.03c SPCC613.09 SPBC17D1.03c SPBC6B1.10 SPBC13G1.12 SPBP4G3.02 SPCC1840.11 SPAPB17E12.07c SPBC106.04 SPBC21H7.03c SPCC757.08 SPBC19C7.07c SPAC22H10.05c SPAC3A12.15 SPAC1F12.08 SPBC25B2.09c