Blp058.7z Instant

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

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

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

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

Below is a feature profile of this condition based on clinical data from sources like MalaCards . Cognitive & Developmental Profile : Significant delays in global milestones such as

: Ranges from mild to severe impairment.

: Hyperextensible joints are frequently reported. Sensory : Potential for hearing loss. Genetics & Classification and walking. : Variable behavioral issues

: Common findings include scrotal hypoplasia, micropenis, and cryptorchidism (undescended testes).