ALOPECIA-MENTAL RETARDATION SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: AMR SYNDROME
APMR1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 203650
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:0010864) Intellectual disability, severe 120 / 7739
2
(HPO:0002289) Alopecia universalis 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by ...
Clinical Description OMIM Baraitser et al. (1983) reported the combination of alopecia from birth and mental retardation in 3 cousins, each in a different sibship of an inbred Middle Eastern family. The alopecia was total and involved all areas of normal ...