MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614340
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 rare [HPO:skoehler] 832 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0011800) Midface retrusion 221 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0002465) Poor speech 31 / 7739
9
 (HPO:0001510) Growth delay 295 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: