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NEK9-related lethal skeletal dysplasia

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Name:
NEK9-related lethal skeletal dysplasia
Description:
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
ORPHAcode:
464366
Synonyms:
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
NEK9
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14