DISEASE: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Entry
H02376 Disease
Name
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02376 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG
Title
Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
