Pontocerebellar hypoplasia type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PCH2 |
| Number of Symptoms | 14 |
| OrphanetNr: | 2524 |
| OMIM Id: |
277470
612389 612390 613811 |
| ICD-10: |
Q04.3 |
| UMLs: |
C2932714 |
| MeSH: |
C548070 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 81 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic pontocerebellar hypoplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Spinal muscular atrophy associated with central nervous system anomaly -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000253) | Progressive microcephaly | 37 / 7739 | ||||
|
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(HPO:0007772) | Impaired smooth pursuit | 21 / 7739 | ||||
|
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
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(HPO:0002179) | Opisthotonus | 35 / 7739 | ||||
|
|
(HPO:0000711) | Restlessness | 18 / 7739 | ||||
|
|
(HPO:0007308) | Extrapyramidal dyskinesia | 5 / 7739 | ||||
|
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(HPO:0011344) | Severe global developmental delay | 46 / 7739 | ||||
|
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(HPO:0002033) | Poor suck | 37 / 7739 | ||||
|
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(HPO:0012110) | Hypoplasia of the pons | 16 / 7739 | ||||
|
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
|
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(HPO:0002518) | Abnormality of the periventricular white matter | 24 / 7739 | ||||
|
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(HPO:0002171) | Gliosis | 48 / 7739 | ||||
|
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(HPO:0003819) | Death in childhood | occasional [HPO:skoehler] | 42 / 7739 | |||
|
|
(HPO:0002120) | Cerebral cortical atrophy | rare [HPO:skoehler] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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