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KIF7-related ciliopathy

MONDO:0800463

A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.

Also known as: KIF7-related ciliopathy

2 clinical trials for this condition and its sub-types.

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Sub-types

Acrocallosal syndrome (2) Hydrolethalus syndrome 2 (0) Multiple epiphyseal dysplasia, Al-Gazali type (0)

Broader categories

Disease (717) Hereditary disease (188) Human disease (15) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Not yet recruiting 1
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