/alopecia - intellectual disability syndrome

alopecia - intellectual disability syndrome

Rare Disease

MONDO:0008756

Also Known As

Perniola-Krajewska-Carnevale syndromealopecia-intellectual disability syndromealopecia-mental retardation syndromeAMR syndrome 1Amr syndromealopecia intellectual disbility syndrome 1alopecia with severe intellectual deficit

Definition

An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.