Details of Disease

General Information of Disease (ID: DIS9AKO8)

• Disease Name: Cardiac anomalies - developmental delay - facial dysmorphism syndrome
• Synonyms: intellectual disability and distinctive facial features with or without cardiac defects; MED13L syndrome; intellectual disability and distinctive FACIAL features with or without CARDIAC defects; MED13L haploinsufficiency syndrome; mental retardation and distinctive FACIAL features with or without CARDIAC defects; cardiac anomalies - developmental delay - facial dysmorphism syndrome; MRFACD; intellectual disability and distinctive Facial features with or without Cardiac defects; mental retardation and distinctive Facial features with or without Cardiac defects; impaired intellectual development and distinctive facial features with or without cardiac defects
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DISD715V: Hereditary neurological disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS9AKO8: Cardiac anomalies - developmental delay - facial dysmorphism syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014773
  UMLS CUI: C4225208
  OMIM ID: 616789
  MedGen ID: 900924
  Orphanet ID: 369891

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
MED13L	OTSP1W0F	Definitive	Autosomal dominant	[1]

References

• [1] Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.