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GTR Home > Conditions/Phenotypes > Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Synonyms
Basel-Vanagaite-Smirin-Yosef syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACID1, ARC92, BVSYS, CMT2B2, P78, PTOV2, TCBAP0758, MED25
    Summary: mediator complex subunit 25

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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