Blp058.7z Site

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

: It is an X-linked disorder, meaning it is primarily reported in males. It is associated with mutations in the MED12 gene.

: Hyperextensible joints are frequently reported. Sensory : Potential for hearing loss. Genetics & Classification BLP058.7z

Below is a feature profile of this condition based on clinical data from sources like MalaCards . Cognitive & Developmental Profile

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),

: Narrowed eye openings and drooping eyelids.

: Common findings include scrotal hypoplasia, micropenis, and cryptorchidism (undescended testes). : Hyperextensible joints are frequently reported

: Variable behavioral issues, including autistic features and hypotonia (low muscle tone). Craniofacial Characteristics