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GTR Home > Tests > Lysosomal Disorders NGS Panel

Indication

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

Clinical summary

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Imported from GeneReviews

The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Apnea
  • Bruxism
  • Cachexia
  • Constipation
  • Dystonic disorder
  • Kyphosis
  • Spasticity
  • Scoliosis
  • Seizure
  • EEG abnormality
  • Abnormality of the dentition
  • Short stature
  • Truncal ataxia
  • Secondary microcephaly
  • Muscular atrophy
  • Stereotypical hand wringing
  • Gait ataxia
  • Autistic behavior
  • Gait apraxia
  • Prolonged QTc interval
  • Intermittent hyperventilation
  • Developmental regression
  • Abnormal T-wave
  • Short foot
  • Motor deterioration
  • Intellectual disability, profound
  • Gastroesophageal reflux
  • Cerebral cortical atrophy
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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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