Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/22/2015
PubMed IDs:
35094889 25439098 33352606 33229923 27148565 35211951 31911028 32089526 33633953 34790866 28486374 36210261 29150892 34933843 29097605 33117858 33750045 34631953 25342064 35440576 33275834 34583915 29307761
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/17/2025

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