PONTOCEREBELLAR HYPOPLASIA, TYPE 2C
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PCH2C |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
612390
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000252) | Microcephaly | 18711368 | IBIS | 832 / 7739 | ||
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(HPO:0000505) | Visual impairment | 18711368 | IBIS | 297 / 7739 | ||
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(HPO:0001332) | Dystonia | 18711368 | IBIS | 197 / 7739 | ||
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(HPO:0002072) | Chorea | 18711368 | IBIS | 53 / 7739 | ||
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(HPO:0001320) | Cerebellar vermis hypoplasia | 18711368 | IBIS | 57 / 7739 | ||
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(HPO:0100307) | Cerebellar hemisphere hypoplasia | 18711368 | IBIS | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord ... |
| Molecular genetics OMIM | In an individual of Turkish origin with PCH2, Budde et al. (2008) identified homozygosity for an arg58-to-trp substitution in TSEN34 (608754.0001). |