Joubert syndrome

Also known as: Joubert's syndrome

Ciliopathy with molar tooth sign.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected; X-linked OFD1 form male only; Female: affected equally in autosomal forms; Children: yes, congenital
Gene(s) involved: AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP290, CPLANE1, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM67, ZNF423

Etiology & mechanism

Primary cilium defects.

Gene(s) involved (18)

AHI1ARL13BB9D1B9D2CC2D2ACEP290CPLANE1INPP5EKIF7NPHP1OFD1RPGRIP1LTCTN1TCTN2TCTN3TMEM216TMEM67ZNF423

Symptoms & signs (6)

abnormal breathingataxiadevelopmental delayhypotoniamolar tooth signocular motor apraxia

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