Blp058.7z < Reliable >
: Narrowed eye openings and drooping eyelids.
: Significant delays in global milestones such as sitting, standing, and walking. BLP058.7z
: Also known as Ohdo Syndrome, Maat-Kievit-Brunner Type . : Narrowed eye openings and drooping eyelids
: Variable behavioral issues, including autistic features and hypotonia (low muscle tone). Craniofacial Characteristics Maat-Kievit-Brunner (MKB) Type
Below is a feature profile of this condition based on clinical data from sources like MalaCards . Cognitive & Developmental Profile
: Affected individuals often have little to no functional speech.
The identifier refers to Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner (MKB) Type , which is a rare X-linked syndromic intellectual disability disorder.