Blp058.7z Apr 2026

: Includes a broad nasal bridge with a bulbous tip, long philtrum, narrow mouth, and prominent cheeks.

: Narrowed eye openings and drooping eyelids. BLP058.7z

The identifier refers to Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner (MKB) Type , which is a rare X-linked syndromic intellectual disability disorder. : Includes a broad nasal bridge with a

: Common findings include scrotal hypoplasia, micropenis, and cryptorchidism (undescended testes). Maat-Kievit-Brunner (MKB) Type