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GTR Home > Conditions/Phenotypes > Even-plus syndrome

Even-plus syndrome

Synonyms
EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

EVEN-plus syndrome (EVPLS) is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015). [from OMIM]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, SAAN, SIDBA4, HSPA9
    Summary: heat shock protein family A (Hsp70) member 9

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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