@entity12608 ( @entity12608 ) is characterized by the association of @entity6126 and @entity4838 . The gene underlying the X chromosome-linked form of the disease, @entity24957 , consists of 14 coding exons. It encodes a glycoprotein, @entity24957 , which is involved in the embryonic migration of GnRH-synthesizing neurons and the differentiation of the olfactory bulbs. We describe herein the clinical heterogeneity in three affected brothers who carry a large deletion (exons 3-13) in @entity24957 . All three had a history of @entity6126 with delayed @entity1175 . Although brain magnetic resonance imaging showed hypoplastic olfactory bulbs in the three siblings, variable degrees of @entity4838 / @entity9905 were shown by olfactometry. In addition, these brothers had different phenotypic anomalies, i.e. @entity8 (siblings B and C), @entity6127 (sibling A), brachymetacarpia (sibling A), @entity33159 (siblings A and B), and @entity2358 (sibling C). Last but not least, sibling A suffered from a severe @entity393 , a feature that had been reported in @entity12608 but had not yet been ascribed unambiguously to the @entity1112 . The variable phenotype, both qualitatively and quantitatively, in this family further emphasizes the role of putative modifier genes, and/or epigenetic factors, in the expressivity of the X-linked @entity12608 .

X XXXX : clinical heterogeneity in three siblings carrying an intragenic deletion of the @entity24957 gene.

@entity8 :: ('MESH:D007674', 'Disease') :: ['unilateral renal aplasia'] @entity33159 :: ('OMIM:157600', 'Disease') :: ['mirror movements'] @entity2358 :: ('MESH:D020820', 'Disease') :: ['abnormal eye movements'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked form of the disease'] @entity1175 :: ('MESH:D011628', 'Disease') :: ['puberty'] @entity9905 :: ('MESH:C564321', 'Disease') :: ['hyposmia'] @entity6126 :: ('MESH:D007006', 'Disease') :: ['hypogonadotropic hypogonadism'] @entity4838 :: ('MESH:D000857', 'Disease') :: ['anosmia'] @entity24957 :: ('3730', 'Gene') :: ['anosmin-1', 'KAL-1'] @entity6127 :: ('MESH:D007569', 'Disease') :: ['high-arched palate'] @entity12608 :: ('MESH:D017436', 'Disease') :: ['KS', 'Kallmann syndrome'] @entity393 :: ('MESH:D034381', 'Disease') :: ['congenital hearing impairment']
@entity1112 :: (MESH:D040181,Disease) :: ['chromosome-linked Kallmann syndrome']
