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GENATLAS PHENOTYPE

last update : 14-09-2017

Symbol	RBSND
Location	3p25.1
Name	rabenosyn-5 deficincy
Corresponding gene	RBSN
Main clinical features	intractable seizures, developmental delay, microcephaly, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	mental retardation
	hematology
Type	disease

Remark(s)

mutation in RBSN, secondarily disrupts multiple cellular functions dependent on endocytosis, leading to a severe multi-organ disorder (PMID: 25233840))