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GENATLAS PHENOTYPE

last update : 13-03-2019

Symbol	DHPSD
Location	19p13.2
Name	deoxyhypusine synthase deficiency
Corresponding gene	DHPS
Main clinical features	global developmental delay and seizures, facial dysmorphism with deep-set eyes, broad nasal tip, and thin upper lip; absence seizures were the most frequent clinical seizure type also includes short stature, microcephaly, abnormal tone (axial hypertonia or spasticity), and prenatal maternal hypertension sitting and walking were mildly delayed but speech was the most severely affected milestones
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)

. rare biallelic variants in DHPS result in reduced enzyme activity that limits the hypusination of EIF5A and are associated with a neurodevelopmental disorder (PMID: 30661771))