Similar Diseases
- Microcephaly pontocerebellar hypoplasia dyskinesia
- CLP1-related pontocerebellar hypoplasia
- PCH8
- Autosomal recessive cerebelloparenchymal disorder type 3
- Fetal-onset olivopontocerebellar hypoplasia
- Olivopontocerebellar Atrophy, X-Linked
- Hypomyelination With Spinal Muscular Atrophy and Cerebellar Hypoplasia
- Encephalopathy fatal infantile with olivopontocerebellar hypoplasia
- Pch1
- Cerebellocerebral Atrophy, Progressive
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Results for Query ‹ PCH2 symptoms ›
Pontocerebellar hypoplasia – Diagnosis | Classification
Pontocerebellar hypoplasia is classified as follows:
Pontine and cerebellar hypoplasia is also observed in certain phenotypes of X-linked mental retardation – so called MICPCH.
Pontocerebellar hypoplasia – Outcomes
The severity of different forms of PCH varies, but many children inheriting the mutated gene responsible do not survive infancy or childhood; nevertheless, some individuals born with PCH have reached adulthood.