Alopecia-intellectual disability syndrome

An extremely rare genetic syndromic intellectual disability 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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)