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.

References:

[1]. Frederike Leonie Harms, et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 5;100(1):117-127. [Content Brief]

[2]. Hannah Sleven, et al. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. Am J Hum Genet. 2017 Jan 5;100(1):138-150. [Content Brief]

[3]. Hsiao-Tuan Chao, et al. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 5;100(1):128-137. [Content Brief]

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