pontocerebellar hypoplasia
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
PCH
exact
isolated pontocerebellar hypoplasia
narrow
nonsyndromic pontocerebellar hypoplasia
narrow
pontocerebellar hypoplasia
exact
pontoneocerebellar atrophy
exact
pontoneocerebllar hypoplasia
exact
SPCC1840.11 SPAC959.10 SPCC757.08 SPAC57A10.03 SPBC25B2.09c SPAC22A12.12c SPBC106.04 SPBC13G1.12 SPBC17D1.03c SPCC613.09 SPBC19C7.07c SPAC3A12.15 SPBP4G3.02 SPBC6B1.10 SPAC22H10.05c SPAC1F12.08 SPAPB17E12.07c SPBC21H7.03c SPAC3G6.10c SPBC428.03c