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Nephronophthisis 12

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

129

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Genes

External Links

  • OMIM

    613820

  • Orphanet
  • HPO
  • Medgen

    C3151186

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