: Variable behavioral issues, including autistic features and hypotonia (low muscle tone). Craniofacial Characteristics
: It is an X-linked disorder, meaning it is primarily reported in males. It is associated with mutations in the MED12 gene.
: Ranges from mild to severe impairment.
Below is a feature profile of this condition based on clinical data from sources like MalaCards . Cognitive & Developmental Profile
If you were referring to a specific software package or technical file named "BLP058.7z" rather than this medical condition, please provide more it belongs to. Search results for ohdo syndrome maat kievit brunner type
: Includes a broad nasal bridge with a bulbous tip, long philtrum, narrow mouth, and prominent cheeks.
: Affected individuals often have little to no functional speech.
: Common findings include scrotal hypoplasia, micropenis, and cryptorchidism (undescended testes).
