MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615802
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:0000400) Macrotia 108 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
5
 (HPO:0001319) Neonatal hypotonia 101 / 7739
6
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: