MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCPH7 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
612703
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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 inheritance [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 | 832 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 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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Additional Information:
| Clinical Description OMIM |
Darvish et al. (2010) reported a consanguineous Iranian family in which 4 individuals had primary microcephaly and mental retardation. Other features in this family included short stature, strabismus, ataxia, and seizures. The authors also reported a second consanguineous ... |
| Molecular genetics OMIM |
Kumar et al. (2009) identified 3 different homozygous mutations in the STIL gene (181590.0001-181590.0003) in affected members of 4 Indian families with autosomal recessive primary microcephaly. In affected members of a large consanguineous kindred from the ... |