Similar Diseases
- Pch1
- Adult-onset proximal spinal muscular atrophy, autosomal dominant
- Fetal-onset olivopontocerebellar hypoplasia
- Hypomyelination With Spinal Muscular Atrophy and Cerebellar Hypoplasia
- CLP1-related pontocerebellar hypoplasia
- PCH8
- Mmds
- ATP7A-related distal motor neuropathy
- Amc, Distal, X-Linked
- Microcephaly pontocerebellar hypoplasia dyskinesia
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Results for Query ‹ Pch1 screening ›
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.
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.