ALOPECIA-MENTAL RETARDATION SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: APMR2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 610422
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0002289) Alopecia universalis 20 / 7739
3
 (OMIM) Mental retardation, mild to moderate 33 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wali et al. (2006) reported a large consanguineous Pakistani family in which 3 males and 2 females had total alopecia and mild to moderate mental retardation (IQs ranging from 53 to 61). Teeth, nails, sweating, and hearing were ...