Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?
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