Joubert syndrome
(Q1101694)
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones
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Current Data About
Joubert syndrome
other details
| aliases |
JBTS cerebellooculorenal syndrome Joubert syndrome type A CPD IV Pure Joubert syndrome Classic Joubert syndrome Joubert-Boltshauser syndrome Cerebelloparenchymal disorder IV |
| description | Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones |
External Links
| (P492) |
213300
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| (P493) |
742.2
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| (P557) |
30688
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| (P646) |
/m/0fm08
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| (P665) |
H00530
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| (P699) |
DOID:0050777
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| (P1550) |
475
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| (P2892) |
C0431399
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| (P3417) |
Joubert-Syndrome
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| (P4229) |
Q04.3
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| (P4233) |
jouberts-syndrome
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| (P4317) |
6802
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| (P5270) |
MONDO_0018772
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| (P6366) |
2777386794
2911216662 |
| (P7329) |
LD20.00
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| (P7464) |
joubert-syndrome
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| (P7807) |
1414756318
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| (P10283) |
C2777386794
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| (P11143) |
Joubert syndrome
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