Neurology · Neurology / Pediatric neurology; Neurogenetics
Joubert syndrome
also: Joubert's syndrome
Ciliopathy with molar tooth sign.
- 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
- Alternative names & eponyms
- Joubert's syndrome
Etiology & mechanism
Primary cilium defects.
Gene(s) involved (18)
AHI1
ARL13B
B9D1
B9D2
CC2D2A
CEP290
CPLANE1
INPP5E
KIF7
NPHP1
OFD1
RPGRIP1L
TCTN1
TCTN2
TCTN3
TMEM216
TMEM67
ZNF423
Symptoms & signs (6)
In plain terms, someone with Joubert syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Poretti–Boltshauser syndrome
ataxia, developmental delay, molar tooth sign
2 shared
Brain–lung–thyroid syndrome
developmental delay, hypotonia
2 shared
Cerebral folate deficiency syndrome
ataxia, hypotonia
2 shared
Dandy–Walker malformation
ataxia, developmental delay
2 shared
Glucose transporter type 1 deficiency syndrome
ataxia, developmental delay
2 shared
Kabuki syndrome
developmental delay, hypotonia
2 shared
Leigh syndrome
ataxia, hypotonia
2 shared
NARP syndrome
ataxia, developmental delay
2 shared
Phelan–McDermid syndrome
developmental delay, hypotonia
2 shared
Ritscher–Schinzel syndrome
developmental delay, hypotonia
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