Details of Disease

General Information of Disease (ID: DISJ9BG9)

• Disease Name: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
• Synonyms: IDDFSDA; intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
• Definition: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS80GDF: Monogenic epilepsy
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISJ9BG9: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
• Disease Identifiers:
  MONDO ID: MONDO_0044319
  UMLS CUI: C4479520
  OMIM ID: 617452
  MedGen ID: 1375601
  Orphanet ID: 505237

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
OTUD6B	OTNGMN6S	Strong	Autosomal recessive	[1]

References

• [1] Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.