Blepharophimosis-intellectual disability syndrome, MKB type

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Synonyms: BMRS, MKB type | BMRS, Maat-Kievit-Brunner type | Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome

A rare X-linked syndromic intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech urogenital abnormalities including scrotal hypoplasia micro penis and cryptorchidism autistic behavior and facial dysmorphism. Most typical facial features are ptosis blepharophimosis a bulbous nasal tip a long philtrum and maxillar hypoplasia with full cheeks. Other variable features include microcephaly hearing loss dental anomalies and hyperextensible joints.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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