Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X z powodu mutacji JARID1C

A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.