Kallmann Syndrome may be due to a number of mutations. One of the common causes is a mutation in KAL1, which involve a null allele or a missense mutation.
Gene: KAL1
Gene location: Xp22.3
Inheritance: X-linked, resulting in males being affected almost exclusively
Clinical features:
(1) hyposomia or anosmia
(2) hypogonadism that is often severe
(3) bimanual synkinesis (synkinesis is an unintentional movement accompanying a volitional movement)
(4) variable renal agenesis
(5) high arched palate
(6) tooth agenesis
(7) variable hearing impairment
(8) pes cavus
(9) ptosis
To read more or access our algorithms and calculators, please log in or register.
