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Article

Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2026

Ahmed Zaheer, Thahiem Summan, Bakhsh Allah, Khan Muhammad Jawad, Umair Muhammad, Khan Hammal

Abstract excerpt

Congenital NAD deficiency (CNDD) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, frequently affecting the spine, kidneys, heart and nervous system. NADSYN1 is one of the genes of the NAD pathway that is mutated in CNDD. Here, we report a 5-year-old boy from a consanguineous family presenting with multiple vertebral segmentation defects, developmental delay and intellectual...

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Identifiers

PMID: 42153968
DOI: 10.1002/jdn.70140

Genes

NADSYN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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