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GTR Home > Conditions/Phenotypes > Non-acquired combined pituitary hormone deficiency with spine abnormalities

Non-acquired combined pituitary hormone deficiency with spine abnormalities

Synonyms
Combined pituitary hormone deficiency type 3; Deafness, sensorineural with pituitary dwarfism; LHX3-Related Combined Pituitary Hormone Deficiency; Pituitary hormone deficiency, combined with rigid cervical spine; WBP syndrome; Winkelman Bethge Pfeiffer syndrome; Winkelmann-Bethge-Pfeiffer syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008). For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038). [from OMIM]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPHD3, LIM3, M2-LHX3, LHX3
    Summary: LIM homeobox 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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