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GTR Home > Conditions/Phenotypes > Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Synonyms
Birk-Landau-Perez syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency (Perez et al., 2017; Kleyner et al., 2022). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BILAPES, C4orf1, GAC63, HUEL, ZNT9, SLC30A9
    Summary: solute carrier family 30 member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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