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GENATLAS PHENOTYPE

last update : 05-12-2023

Symbol	PREPLDI
Location	2p21
Name	PREPL deficiency isolated
Corresponding gene	PREPL
Main clinical features	neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency, absence of cystinuria adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome
Genetic determination	not applicable
Function/system disorder	neurology
	neuromuscular
Type	disease

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