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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