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
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