Term Name: | ulnar-mammary syndrome |
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Synonyms: | Pallister ulnar-mammary syndrome, Schinzel syndrome |
Definition: | A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. |
Ontology: | Human Disease [DOID:0060614] ( DOID:0060614 ) |