MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPCB9
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615145
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0000612) Iris coloboma 116 / 7739
3
(HPO:0007663) Reduced visual acuity 100 / 7739
4
(HPO:0000482) Microcornea 102 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Anomalous discs 1 / 7739
8
(OMIM) Total coloboma, involving the macula 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aldahmesh et al. (2012) reported a Saudi Arabian brother and sister, born of third-cousin parents, who had nonsyndromic bilateral colobomatous microphthalmia. The 11-year-old brother had no medical history other than congenitally small eyes and accompanying poor vision, with ...
Molecular genetics OMIM In a Saudi Arabian brother and sister with nonsyndromic bilateral colobomatous microphthalmia, who were negative for mutation in known microphthalmia genes, Aldahmesh et al. (2012) performed combined autozygome and exome analysis, which revealed homozygosity for a frameshift mutation ...