Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

MONDO:0017811

A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.

Also known as: 5q31.3 microdeletion syndrome, Del(5)(q31.3), monosomy 5q31.3

0 clinical trials for this condition and its sub-types, 0 tagged with Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion itself.

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↑ Syndromic disease (7158) ↑ Partial deletion of the long arm of chromosome 5 (4) ↑ PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (0)

Including sub-types (0) Tagged with Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion (0)

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