and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified...

mid-hindbrain regions improved dramatically. Joubert syndrome (JS) is one of the most commonly diagnosed syndromes associated with the molar tooth sign (MTS)...

COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining...

first identified Joubert syndrome Pierre Joubert (illustrator), French illustrator Pierre Joubert (viticulturalist), (1664–1732) Joubert, in Sydney Pollack's...

syndrome Jones–Hersh–Yusk syndrome Jones syndrome Jorgenson–Lenz syndrome Joseph disease Joubert syndrome bilateral chorioretinal coloboma Joubert syndrome...

hypomelanosis Joubert syndrome Keipert syndrome Legius syndrome LEOPARD syndrome Lethal congenital contracture syndrome MASA syndrome Megalencephaly...

58 Joubert syndrome 1 Kleefstra syndrome 2 Langer-Giedion syndrome Microphthalmia with brain and digit anomalies Mitochondrial DNA depletion syndrome 13...

deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...

syndrome Haas syndrome Hanhart syndrome Holt–Oram syndrome Humeroradial synostosis Johnson–Munson syndrome Joubert syndrome McKusick–Kaufman syndrome...

found to have PHACE syndrome, a condition involving brain, cardiovascular and eye abnormalities, while 2.3% had Joubert syndrome, a condition involving...

dysmorphism syndrome due to SETD5 haploinsufficiency Joubert syndrome 35 KBG syndrome Kleefstra syndrome 1 Lissencephaly 6 with microcephaly...

is one of several abnormal breathing patterns potentially seen in Joubert syndrome and related disorders. Hospices sometimes document the presence of...

compared with DES, Joubert syndrome has shown links to seven gene mutations. As is the case with almost all diseases, the three syndromes compared show allelic...

cerebellar vermis is a characteristic of both Dandy–Walker syndrome and Joubert syndrome. In very rare cases, the entire cerebellum may be absent. The...

disorder. There is an overlap in symptoms between 3C syndrome and Joubert syndrome. Joubert syndrome often manifests with similar cerebellar hypoplasia...

cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading...

diseases, including Bardet–Biedl syndrome, orofaciodigital syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and nephronophthisis. Regulation...

(disambiguation) Molar tooth sign, a characteristic of the genetic disorder Joubert syndrome This disambiguation page lists articles associated with the title Molar...

Isodicentric 15 Joubert syndrome Karak syndrome Kearns–Sayre syndrome Kinsbourne syndrome Kleine–Levin syndrome Klippel Feil syndrome Krabbe disease Korsakoff...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

syndromes) chromosomal rearrangements gene mutations (monogenic malformative diseases) Kabuki mask syndrome: MLL2 Joubert syndrome, Meckel syndrome and...

born at Guy's Hospital, London, in 1988 with a rare genetic disorder, Joubert syndrome, causing cerebral vermis hypoplasia and several other neurological...

Dysequilibrium syndrome CAMOS syndrome Cerebellar ataxia, Cayman type Joubert syndrome with oculorenal defect Joubert syndrome Joubert syndrome with hepatic...

anhidrosis Crohn's disease (the NOD2/CARD15 locus appears to be implicated) Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent;...

CEP290 have also been identified in causing Meckel Syndrome and Joubert Syndrome, a few among many syndromes. A defective CEP290 gene is usually the cause...

in this gene have been associated with Oral-facial-digital syndrome IV and Joubert syndrome 18. Alternatively spliced transcript variants encoding multiple...

South African contract law Joubert's Pass, a mountain pass in the Eastern Cape province of South Africa Joubert syndrome, a genetic disorder This disambiguation...

neuroectodermal syndromes. This includes polycystic brains associated with ectodermal dysplasia, frontonasal dysplasia, and Joubert syndrome. There is a fourth...

the case. Wnt1 is thought to be behind the genetic disorder called Joubert Syndrome, a disorder that affects the cerebellum. Otx1 and Otx2 are genes that...

Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome. GRCh38: Ensembl release 89: ENSG00000048342 – Ensembl, May...