MICROPHTHALMIA, SYNDROMIC 12

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPS12
MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615524
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
2
(HPO:0000813) Bicornuate uterus 22 / 7739
3
(HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
4
(HPO:0000278) Retrognathia 100 / 7739
5
(HPO:0000347) Micrognathia 426 / 7739
6
(HPO:0000568) Microphthalmia 183 / 7739
7
(HPO:0000528) Anophthalmia 42 / 7739
8
(HPO:0000455) Broad nasal tip 67 / 7739
9
(HPO:0000431) Wide nasal bridge 290 / 7739
10
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
11
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
12
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
13
(HPO:0005156) Hypoplastic left atrium rare [HPO:skoehler] 3 / 7739
14
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
15
(OMIM) Malrotation of bowel 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Small spleen 1 / 7739
18
(OMIM) Enlarged pulmonary trunk (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chitayat et al. (2007) described 3 deceased sibs, born to nonconsanguineous parents of French Canadian and English descent, with bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia, who also exhibited mild facial dysmorphism with broad nasal root and tip ...
Molecular genetics OMIM In a nonconsanguineous family with 4 microphthalmic sibs who had variable additional features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities, who were originally reported by Chitayat et al. (2007) and found to be negative for mutation in ...