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GTR Home > Conditions/Phenotypes > Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Synonyms
DIPHTHAMIDE DEFICIENCY SYNDROME 2

Summary

Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020). For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEDSSH2, DPH2L2, DPH2
    Summary: diphthamide biosynthesis 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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