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GENATLAS PHENOTYPE

last update : DDMHH

Symbol	DDMHH
Location	Xq24
Name	developmental delay, tall stature with Marfanoid habitus, and hypotonia
Corresponding gene	NKAP
Main clinical features	facial dysmorphisms included: a long face,open-mouth appearance, midface hypoplasia, prominent or large ears, and a short philtrum, developmental delay/intellectual disability tall stature, musculoskeletal findings were common, pectus carinatum or excavatum, scoliosis, and arachnodactyly
Genetic determination	sex linked
Function/system disorder	connective tissue
	mental retardation
	neurology
Type	disease

Remark(s)

. mutations are located within exon 8 and exon 9 of NKAP, and NKAP dysfunction due to NKAP mutations results in misexpression of longer genes with larger numbers of exons (PMID: 31587868))