Alopecia - intellectual disability syndrome
Alopecia - intellectual disability syndrome
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.
Also known as alopecia-intellectual disability syndrome, Perniola-Krajewska-Carnevale syndrome — per MONDO