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GTR Home > Tests > Non-syndromic hearing loss panel. 95-gene NGS panel.

Indication

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

Clinical summary

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Imported from GeneReviews

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Ptosis
  • Congenital ocular coloboma
  • Hypertelorism
  • Wide mouth
  • Microphthalmia
  • Retrognathia
  • Seizure
  • Corpus callosum, agenesis of
  • Webbed neck
  • Trigonocephaly
  • Lissencephaly
  • Short stature
  • Telecanthus
  • Secondary microcephaly
  • Short neck
  • Abnormal pinna morphology
  • Hearing impairment
  • Pointed chin
  • Long palpebral fissure
  • Long philtrum
  • Thin upper lip vermilion
  • Highly arched eyebrow
  • Orofacial cleft
  • Ventriculomegaly
  • Intellectual disability
  • Pachygyria
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Inheritance pattern

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Autosomal dominant 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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