MICROPHTHALMIA, ISOLATED 1

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMOS, AUTOSOMAL RECESSIVE
ANOPHTHALMIA, CLINICAL, ISOLATED
MCOP
MCOP1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 251600
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:0000528) Anophthalmia 42 / 7739
2
(HPO:0000568) Microphthalmia 183 / 7739
3
(HPO:0011478) True anophthalmia 17 / 7739
4
(HPO:0000501) Glaucoma 180 / 7739
5
(OMIM) High-grade hyperopia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and ...
Clinical Description OMIM Cecchetto (1920) reported a pedigree in which 2 brothers, each married to a first cousin, had a child with bilateral clinical anophthalmia. The common grandparents were also first cousins. Hesselberg (1951) reported affected children from first-cousin parents. Sorsby ...