Pontocerebellar Hypoplasia Type 3

Description

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia Type 3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Spasticity

And another 37 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pontocerebellar Hypoplasia Type 3 Is also known as pch without dyskinesia, cerebellar atrophy with progressive microcephaly, clam, pch with optic atrophy, pch3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pontocerebellar Hypoplasia Type 3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PCLO.

By Fulgent Genetics Fulgent Genetics (United States).

PCLO
Specificity
100 %
Genes
100 %
FoundationOneĀ® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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