MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 616116
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:0000713) Agitation 18 / 7739
2
 (HPO:0002465) Poor speech 31 / 7739
3
 (HPO:0002360) Sleep disturbance 113 / 7739
4
 (HPO:0000718) Aggressive behavior 109 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0001510) Growth delay 295 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: