DISEASES

Disease-gene associations mined from literature

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,  CHTE ...