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GENATLAS PHENOTYPE

last update : 22-12-2020

Symbol	GDDLM
Location	19p13.3
Name	global developmental delay (GDD) with language and motor skills defects
Corresponding gene	KDM4B
Main clinical features	seizures, and anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria dysmorphic facial features, frequent language delay and gross motor delay
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

Remark(s)

. variants in KDM4B can lead to syndromic GDD, most likely through dysregulation of corticogenesis (PMID: 33232677))