MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615942
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:0005280) Depressed nasal bridge rare [HPO:skoehler] 381 / 7739
2
 (HPO:0005469) Flat occiput rare [HPO:skoehler] 30 / 7739
3
 (HPO:0000343) Long philtrum rare [HPO:skoehler] 262 / 7739
4
 (HPO:0000233) Thin vermilion border rare [HPO:skoehler] 124 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001763) Pes planus rare [HPO:skoehler] 176 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: