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  2. Hypotonia, ataxia, and delayed development syndrome

Hypotonia, ataxia, and delayed development syndrome

Definition:

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation.

Biomedical Dictionary

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