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GENATLAS PHENOTYPE

last update : 15-11-2023

Symbol	DDFHID
Location	19p13.3
Name	developmental delay, feeding difficulties, hypotonia, and/or intellectual disability
Corresponding gene	DOT1L
Main clinical features	global developmental delay, feeding difficulties, hypotonia, and/or intellectual disability, a disorder of lysine methyltransferase (KMT) microcephaly, or brain atrophy shown by MRI, and also large head circumferences, cardiac anomalies, urogenital anomalies and any cases with deafness, with absent language
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
	cardiovascular
	ear
Type	disease

Remark(s)

. all variants, except p.Arg853Cys, increases H3K79 methylation levels compared to reference, consistent with a gain-of-function mechanism (PMID: 37827158))