NANOPHTHALMOS 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NANOPHTHALMOS, AUTOSOMAL RECESSIVE NANOPHTHALMIA 2 NNO2 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
609549
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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:0000568) | Microphthalmia | 183 / 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 |
Nanophthalmos is a rare genetic disorder in which both eyes are small, functional, and without major structural defects. Cross and Yoder (1976) reported 3 sisters with nanophthalmos in a sibship of Amish extraction. Sundin et al. (2005) described ... |
| Molecular genetics OMIM |
In 4 individuals with nanophthalmos from the Amish-Mennonite kindred originally reported by Cross and Yoder (1976), Sundin et al. (2005) identified homozygosity for a frameshift mutation in the MFRP gene (606227.0001). An additional affected member of this kindred ... |