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GTR Home > Tests > Epileptic encephalopathy, early infantile: Full gene sequencing panel

Indication

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

Clinical summary

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Imported from OMIM

Congenital disorder of glycosylation type IIm, or developmental and epileptic encephalopathy-22 (DEE22), is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia on EEG, hypotonia, and developmental delay associated with severe intellectual disability and lack of speech. These features are consistent with developmental and epileptic encephalopathy (DEE). Brain malformations usually include cerebral and cerebellar atrophy. Additionally, some patients may have dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Enamel hypoplasia
  • Fetal growth restriction
  • Teeth, fused
  • Atrial septal defect
  • Hypertensive disorder
  • Hypotonia
  • Nystagmus
  • Seizure
  • Vesicovaginal fistula
  • Oligohydramnios
  • Ocular flutter
  • Cerebral atrophy
  • Recurrent infections
  • Open mouth
  • High palate
  • Cerebellar hypoplasia
  • Hypoplasia of the corpus callosum
  • Mandibular prognathia
  • Ureteropelvic junction obstruction
  • Epileptic encephalopathy
  • Global developmental delay
  • Epicanthus
  • Hypsarrhythmia
  • Neonatal hyperbilirubinemia
  • Epileptic spasm
  • Poor head control
  • Thick vermilion border
  • Coarse facial features
  • Wide nasal bridge
  • Exaggerated cupid bow
  • Enlarged cisterna magna
  • Thick eyebrow
  • Absent speech
  • Lateral ventricle dilatation
  • Short philtrum
  • Full cheeks
  • Abnormal isoelectric focusing of serum transferrin
  • Intellectual disability
  • Delayed CNS myelination
  • Gastroesophageal reflux
  • Microcephaly
  • Rod-cone dystrophy
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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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