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GTR Home > Conditions/Phenotypes > Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome

Synonyms
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate; Bamforth syndrome; Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAMLAZ, FKHL15, FOXE2, HFKH4, HFKL5, NMTC4, TITF2, TTF-2, TTF2, FOXE1
    Summary: forkhead box E1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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