| Metadata | |
|---|---|
| ID | DOID:0111140 |
| Name | IGSF1 deficiency syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/, https://www.ncbi.nlm.nih.gov/pubmed/23143598 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
central hypothyroidism and testicular enlargement [EXACT] CHTE [EXACT] X-linked central congenital hypothyroidism with late-onset macroorchidism [EXACT] X-linked central congenital hypothyroidism with late-onset testicular enlargement [EXACT] |
| Parent Relationships |
is_a syndrome |