MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 156190
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:0000646) Amblyopia 42 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0001510) Growth delay 295 / 7739
4
(OMIM) Reciprocal balanced translocation t(8,11)(q24.3,p15.1) 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: