Intellectual developmental disorder with autism and speech delay

Definition:

Intellectual developmental disorder with autism and speech delay (IDDAS) is the TBR1-related autistic-spectrum-disorder. TBR1 encodes a neuron-specific transcription factor, that is highly expressed in the deep layers of the cortex.

References:

[1]. Hui Guo, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679. [Content Brief]

[2]. J H McDermott, et al. The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. Eur J Med Genet. 2018 May;61(5):253-256. [Content Brief]

[3]. Joery den Hoed, et al. Functional characterization of TBR1 variants in neurodevelopmental disorder. Sci Rep. 2018 Sep 24;8(1):14279. [Content Brief]

[4]. Pelagia Deriziotis, et al. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat Commun. 2014 Sep 18;5:4954. [Content Brief]

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