Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Definition:

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features. It may be accompanied by microcephaly, feeding problems, and variable facial features. Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 have been reported in patients.

References:

[1]. Servi J C Stevens, et al. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Med. 2016 Dec 13;8(1):131. [Content Brief]

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