ALOPECIA-MENTAL RETARDATION SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: APMR3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613930
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010864) Intellectual disability, severe 120 / 7739
2
(HPO:0002289) Alopecia universalis 20 / 7739
3
(HPO:0003577) Congenital onset 133 / 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. (2007) reported a consanguineous Pakistani family with autosomal recessive mental retardation associated with generalized alopecia. Affected individuals had complete absence of scalp hair at birth and showed lack of eyebrows, eyelashes, and axillary and pubic ...