MICROPHTHALMIA, ISOLATED 2

General Information (adopted from Orphanet):

Synonyms, Signs: ANOPHTHALMIA, CLINICAL, ISOLATED
MCOP2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 610093
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:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kohn et al. (1988) described a large consanguineous Arab kindred in Israel in which 19 persons over 3 generations had bilateral profound microphthalmia without associated anomalies and with normal intelligence. One female infant had tracheoesophageal fistula repaired in ...
Molecular genetics OMIM Bar-Yosef et al. (2004) studied 4 families (2 of Arab origin, 1 of Bedouin origin, and 1 of Persian Jewish origin) with autosomal recessive isolated microphthalmia/clinical anophthalmia and no associated eye anomalies. In the 2 Arab families, 1 ...