Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

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Synonyms: Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare syndromic intellectual disability primarily characterized by moderate to severe intellectual disability true-to-relative microcephaly and brain abnormalities including a thin corpus callosum cerebellar hypoplasia cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly round face straight eyebrows synophrys hypertelorism epicanthus wide and depressed nasal bridge protruding ears with uplifted lobe downslanting corners of the mouth) are additional features.

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 Data version June 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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