MICROPHTHALMIA, SYNDROMIC 14

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615877
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias rare [HPO:skoehler] 250 / 7739
2
 (HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
3
 (HPO:0000647) Sclerocornea rare [HPO:skoehler] 25 / 7739
4
 (HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
5
 (HPO:0000589) Coloboma 47 / 7739
6
 (HPO:0002342) Intellectual disability, moderate rare [HPO:skoehler] 37 / 7739
7
 (HPO:0000826) Precocious puberty rare [HPO:skoehler] 42 / 7739
8
 (HPO:0008905) Rhizomelia rare [HPO:skoehler] 85 / 7739
9
 (HPO:0001763) Pes planus rare [HPO:skoehler] 176 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: