Pontocerebellar hypoplasia
MONDO:0020135Pontocerebellar 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.
Also known as: PCH, pontocerebellar hypoplasia, pontoneocerebellar atrophy, pontoneocerebllar hypoplasia, isolated pontocerebellar hypoplasia, nonsyndromic pontocerebellar hypoplasia
8 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Pontocerebellar hypoplasia type 6
(2)
Pontocerebellar hypoplasia, IIA 17
(0)
Pontocerebellar hypoplasia type 1
(0)
Pontocerebellar hypoplasia type 10
(0)
Pontocerebellar hypoplasia, type 11
(0)
Pontocerebellar hypoplasia, type 12
(0)
Pontocerebellar hypoplasia, type 13
(0)
Pontocerebellar hypoplasia, type 14
(0)
Pontocerebellar hypoplasia, type 15
(0)
Pontocerebellar hypoplasia, type 16
(0)
Pontocerebellar hypoplasia type 1A
(0)
Pontocerebellar hypoplasia type 1B
(0)
Pontocerebellar hypoplasia, type 1C
(0)
Pontocerebellar hypoplasia, type 1D
(0)
Pontocerebellar hypoplasia, type 1E
(0)
Pontocerebellar hypoplasia, type 1F
(0)
Pontocerebellar hypoplasia type 2
(0)
Pontocerebellar hypoplasia type 2A
(0)
Pontocerebellar hypoplasia type 2B
(0)
Pontocerebellar hypoplasia type 2C
(0)
Broader categories
Disease
(618)
Nervous system disorder
(217)
Hereditary disease
(172)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Central nervous system malformation
(5)
Hereditary neurological disease
(5)
Disease of genetic or genomic mechanism
(2)
Disease by body system or component
(0)
Disease by developmental or physiological process
(0)