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GENATLAS PHENOTYPE

last update : 15-11-2023

Symbol	DDHDM
Location	9p13.3
Name	developmental delay, hypotonia, neurobehavioral abnormalities, dysmorphic features, and macrocephaly
Corresponding gene	VCP
Main clinical features	childhood-onset neurodevelopmental disease, with gross motor delay,and fine motor delay, speech delay, with macrocephaly also dysmorphic facies, musculoskeletal defects, ophthalmologic and gastrointestinal defects
Genetic determination	not applicable
Function/system disorder	mental retardation
	eye
	neuromuscular
Type	disease

Remark(s)

. variants include missense variants spread throughout the protein, in-frame deletions, and a frameshift and a splicing variant that could lead to haploinsufficiency (PMID: 37883978))