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: Small, low-set ears, microcephaly (small head size), and dental anomalies. Physical & Urogenital Anomalies
: Variable behavioral issues, including autistic features and hypotonia (low muscle tone). Craniofacial Characteristics BLP058.7z
: Significant delays in global milestones such as sitting, standing, and walking. : Small, low-set ears, microcephaly (small head size),
Below is a feature profile of this condition based on clinical data from sources like MalaCards . Cognitive & Developmental Profile microcephaly (small head size)
The identifier refers to Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner (MKB) Type , which is a rare X-linked syndromic intellectual disability disorder.
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