severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
MONDO:0002254
syndromic disease
is_a
MONDO:0016904
partial deletion of the long arm of chromosome 5
is_a
MONDO:1060108
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
is_a
5q31.3 microdeletion syndrome
exact
Del(5)(q31.3)
exact
monosomy 5q31.3
exact