Conditions / Genetic
hypogonadotropic hypogonadism 9 with or without anosmia
info · Genetic · ICD-10: E23.0
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.
Signs and symptoms
- Hypogonadotropic hypogonadism
- Micropenis
- Cleft palate
- Gynecomastia
- Cleft lip
- Osteoporosis
- Hyposmia
- Clinodactyly
- Decreased testicular size
- Bifid nose