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IGSF1 deficiency syndrome
Summary
- Synonym
-
- CHTE
- X-linked central congenital hypothyroidism with late-onset macroorchidism
- X-linked central congenital hypothyroidism with late-onset testicular enlargement
- central hypothyroidism and testicular enlargement
- Definition
- A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111140
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
