Congenital vertebral-cardiac-renal anomalies syndrome

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Name:
Congenital vertebral-cardiac-renal anomalies syndrome
Description:
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.
ORPHAcode:
521438
Synonyms:
Congenital NAD deficiency disorder
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14