MICROPHTHALMIA, ISOLATED 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOP7 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
613704
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0000568) | Microphthalmia | 183 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Ye et al. (2010) described an Asian male, born of consanguineous parents, who exhibited unilateral microphthalmia, whereas his father had no ocular anomalies. Both individuals were heterozygous for an L305P mutation (606522.0002) in the GDF3 gene. The authors ... |