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Joubert syndrome

rare

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.

Identifiers
MONDO:0018772 Orphanet:475
Part of
CiliopathyDisorder of development or morphogenesisSyndromic disease
Also known as
cerebellar vermis agenesis · cerebelloparenchymal disorder IV · classic Joubert syndrome · CPD IV · Joubert syndrome type A

Subtypes

All diseases Rare only
Disease Subtypes
Joubert syndrome 17 1
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35
Joubert syndrome 36
Joubert syndrome 37
Joubert syndrome 38
Joubert syndrome 39
Joubert syndrome 40
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Meckel syndrome 13
Meckel syndrome, type 10
Acrocallosal syndrome
Nephronophthisis 14

Rare disease

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