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Article

Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.

American journal of medical genetics. Part A - 1 Aug 2025

Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Kinhal Uddhava V, Srinivas Sahana M, Pandey Himani, Phani Nagaraja M, Dhayalan Pavithra, Lal Devi

Abstract excerpt

Biallelic variants in DPH2 have recently been reported to cause the syndrome of developmental delay with short stature, dysmorphic facial features, and sparse hair-2, also known as diphthamide deficiency syndrome-2. Here we report a child with a biallelic loss-of-function variant p.(Arg477*) in DPH2 with clinical features of developmental delay, failure to thrive, sparse hair, seizures that responded to...

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Identifiers

PMID: 40130534
DOI: 10.1002/ajmg.a.64061

Genes

DPH2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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