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GTR Home > Conditions/Phenotypes > Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome

Synonyms
CHARGE like syndrome X-linked
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring. [from SNOMEDCT_US]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABERS, CLPA, CPX, TBXX, dJ795G23.1, TBX22
    Summary: T-box transcription factor 22

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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