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GTR Home > Tests > Congenital liver fibrosis panel. NGS panel of 52 genes.

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from GeneReviews

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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Ptosis
  • Cerebellar ataxia
  • Atrial septal defect
  • Hypotonia
  • Nystagmus
  • Low-set ears
  • Open mouth
  • Delayed ability to walk
  • Abnormal electroretinogram
  • Epicanthus
  • Nephronophthisis
  • Retinal dystrophy
  • Anteverted nares
  • Cerebellar vermis hypoplasia
  • Frontal polymicrogyria
  • Wide nasal bridge
  • Motor delay
  • Lateral ventricle dilatation
  • Molar tooth sign on MRI
  • Highly arched eyebrow
  • Stage 5 chronic kidney disease
  • Oculomotor apraxia
  • Visual impairment
  • Intellectual disability
  • Neonatal breathing dysregulation
  • Episodic tachypnea
  • Elongated superior cerebellar peduncle
  • Central apnea
  • Enlarged fossa interpeduncularis
  • Pigmentary retinopathy
  • Thin corpus callosum
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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