MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616335
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:0000568) Microphthalmia 183 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0007663) Reduced visual acuity 100 / 7739
7
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: