congenital leptin deficiency (DOID:0111334)
Alliance: disease page
Synonyms: LEPD; leptin deficiency or dysfunction; obesity due to congenital leptin deficiency
Alt IDs: OMIM:614962, ORDO:66628
Definition: A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.