BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 610023
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:0000568) Microphthalmia 183 / 7739
2
(HPO:0000365) Hearing impairment 539 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001156) Brachydactyly syndrome 180 / 7739
5
(HPO:0004322) Short stature 1232 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Quinn et al. (2004) described a 3-generation family with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly. The proband presented at age 28 years with a painful eye with severely reduced visual ...