Human genes for IGSF1 deficiency syndrome
IGSF1 deficiency syndrome [DOID:0111140]
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.
Synonyms: IGSF1 deficiency syndrome, DOID:0111140, IGSF1 deficiency disease, IGSF1 deficiency disorder, central hypothyroidism and testicular enlargement ...