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References OMIM Gene GeneReviews HGMD HGNC
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
    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))