Details of Disease

General Information of Disease (ID: DISB0XLM)

• Disease Name: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
• Synonyms: INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities; IDDSFTA; intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities; BCL11B-related BAFopathy
• Definition: Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.
• Disease Hierarchy:
  DISH7SDF: Syndromic intellectual disability
  DISD715V: Hereditary neurological disease
  DISQTWXD: BAFopathy
  DISB0XLM: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
• Disease Identifiers:
  MONDO ID: MONDO_0060763
  UMLS CUI: C4748152
  OMIM ID: 618092
  MedGen ID: 1648327

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
BCL11B	OT8KKCVJ	Definitive	Autosomal dominant	[1]

References

• [1] Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities. Front Pediatr. 2020 Oct 19;8:544894. doi: 10.3389/fped.2020.544894. eCollection 2020.