MICROPHTHALMIA, SYNDROMIC 13

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 300915
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000568) Microphthalmia 183 / 7739
3
 (HPO:0000565) Esotropia 58 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0012043) Pendular nystagmus 11 / 7739
6
 (HPO:0000482) Microcornea 102 / 7739
7
 (HPO:0000589) Coloboma 47 / 7739
8
 (HPO:0000377) Abnormality of the pinna 111 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0001417) X-linked inheritance 173 / 7739
14
 (HPO:0040080) Anteverted ears 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: