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Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

Summary

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) is an autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Some patients develop seizures. Metabolic studies are unremarkable (Morava et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BM32A, NEDHFS, PMMLP, PGM2L1
    Summary: phosphoglucomutase 2 like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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