Blp058.7z -

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

: Significant delays in global milestones such as sitting, standing, and walking. BLP058.7z

: 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

: Includes a broad nasal bridge with a bulbous tip, long philtrum, narrow mouth, and prominent cheeks. BLP058.7z

: Facial features often become more pronounced with age, sometimes resulting in a triangular facial appearance.