MENTAL RETARDATION, AUTOSOMAL DOMINANT 33

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616311
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:0000646) Amblyopia 42 / 7739
3
 (HPO:0200065) Chorioretinal degeneration 7 / 7739
4
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002650) Scoliosis 705 / 7739
7
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
8
 (HPO:0004325) Decreased body weight 492 / 7739
9
 (HPO:0004322) Short stature 1232 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: