hypogonadotropic hypogonadism 2 with or without anosmia

A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.

Signs and symptoms

• Delayed puberty
• Hypogonadotropic hypogonadism
• Short stature
• Abnormal cardiovascular system morphology
• Intellectual disability
• Micropenis
• Choanal atresia
• Gynecomastia
• Sensorineural hearing impairment
• Bimanual synkinesia