Conditions / Genetic
hypogonadotropic hypogonadism 5 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 CHD7 gene on chromosome 8q12.
Signs and symptoms
- Anosmia
- Hypogonadotropic hypogonadism
- Cleft palate
- Sensorineural hearing impairment
- Cleft lip
- Cryptorchidism