Autosomal recessive primary microcephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCPH Microcephalia vera True microcephaly Microcephaly vera |
| Number of Symptoms | 7 |
| OrphanetNr: | 2512 |
| OMIM Id: |
251200
603802 604317 604321 604804 608393 608716 612703 614673 614852 615414 |
| ICD-10: |
Q02 |
| 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 [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Isolated congenital microcephaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Nervous system anomaly with eye involvement -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0004322) | Short stature | occasional [HPO] | 1232 / 7739 | |||
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(HPO:0003451) | Increased rate of premature chromosome condensation | 1 / 7739 | ||||
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(HPO:0002472) | Small cerebral cortex | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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