Tableau I
Synthèse des principales manifestations cliniques des différents syndromes ciliopathiques.
Absent, 
Atteinte bégnine, 
Atteinte modérée, 
Atteinte sévère.
ACL : amaurose congénitale de Leber ; NPHP : néphronophtise ; SLSN : Senior-Loken ; JBTS : syndrome de Joubert ; MKS : syndrome de Meckel-Gruber ; OFD1 : oral-facial-digital syndrome 1 ; JATD : syndrome de Jeune ; BBS : syndrome de Bardet-Biedl ; ALMS : syndrome d’Alström ; MORM : mental retardation, truncal obesity, retinal dystrophy and micropenis.
| Syndromes | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACL | NPHP | SLSN | JBTS | MKS | OFD1 | JATD | BBS | ALMS | MORM | ||
| Anomalies du développement | - | - | |
|
|
|
|
|
- | |
|
| Dégénérescence rétinienne | |
- | |
|
|
- | |
|
|
|
|
| Atteintes rénales | - | |
|
|
|
|
|
|
|
- | |
| Troubles cognitifs | - | - | - | |
|
|
- | |
- | |
|
| Anomalies du squelette | - | - | |
- | |
|
|
|
- | - | |
| Troubles endocriniens | Hyperinsulinémie | - | - | - | - | - | - | - | |
|
- |
| Diabètes de type 2 | - | - | - | - | - | - | - | |
|
- | |
| Obésité | - | - | - | |
- | - | - | |
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|
|
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