Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Definition
Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.
Also known as BCL11B-related BAFopathy, intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities — per MONDO