Alopecia-intellectual disability syndrome 1

Alopecia-intellectual disability 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 mildly to severely impaired intellectual development (summary by Wali et al., 2007). Genetic Heterogeneity of Alopecia-Intellectual Disability Syndrome Loci for alopecia-intellectual disability syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930). APMR4 (618840) is caused by mutation in the LSS gene (600909) on chromosome 21q22. [from OMIM]