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GTR Home > Conditions/Phenotypes > Primordial dwarfism-immunodeficiency-lipodystrophy syndrome

Primordial dwarfism-immunodeficiency-lipodystrophy syndrome

Summary

Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood (Parry et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PDIL, p49, PRIM1
    Summary: DNA primase subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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