Blp058.7z Apr 2026

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

: Small, low-set ears, microcephaly (small head size), and dental anomalies. Physical & Urogenital Anomalies BLP058.7z

: Narrowed eye openings and drooping eyelids. Maat-Kievit-Brunner (MKB) Type

: Facial features often become more pronounced with age, sometimes resulting in a triangular facial appearance. microcephaly (small head size)

: Significant delays in global milestones such as sitting, standing, and walking.