Details of Disease

General Information of Disease (ID: DISK17VG)

• Disease Name: 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
• Definition: 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.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISK17VG: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018123
  UMLS CUI: C4706414
  MedGen ID: 1644787
  Orphanet ID: 352530
  SNOMED CT ID: 763350002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRAPPC9	OTF0CVMC	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.