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GTR Home > Conditions/Phenotypes > Familial aplasia of the vermis

Familial aplasia of the vermis

Synonyms
CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Joubert syndrome; Joubert-Boltshauser syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Joubert Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Melissa Parisi
Ian Glass
view full author information

Available tests

77 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (76 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: JBTS15, TSGA14, CEP41
    Summary: centrosomal protein 41

  • Also known as: C5orf42, Hug, JBTS17, OFD6, CPLANE1
    Summary: ciliogenesis and planar polarity effector complex subunit 1

  • Also known as: COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134, RPGRIP1L
    Summary: RPGRIP1 like

  • Also known as: C12orf38, JBTS24, MKS8, TECT2, TCTN2
    Summary: tectonic family member 2

  • Also known as: C10orf61, JBTS18, OFD4, TECT3, TCTN3
    Summary: tectonic family member 3

  • Also known as: HSPC196, TMEM138
    Summary: transmembrane protein 138

  • Also known as: ALYE870, JBTS20, MKS11, PRO1886, TMEM231
    Summary: transmembrane protein 231

  • Also known as: ALS2CR4, JBTS14, TMEM237
    Summary: transmembrane protein 237

  • Also known as: ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1, TTC21B
    Summary: tetratricopeptide repeat domain 21B

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