Conditions / Genetic
hypogonadotropic hypogonadism 3 with or without anosmia
info · Genetic · ICD-10: E23.0
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.
Signs and symptoms
- Aplasia of the olfactory bulb
- Hypogonadotropic hypogonadism
- Cleft palate
- Micropenis
- Unilateral renal agenesis
- Hypotelorism
- Hyposmia
- Cleft upper lip
- Primary amenorrhea
- Pes planus