Hearing lossGene: FOXG1
Created: 9 Feb 2016, 10:03 a.m.
Inheritance:Isolated cases Inheritance:Isolated cases
Created: 7 Feb 2016, 8:52 a.m.
Mode of inheritance
#613454:Rett syndrome, congenital variant[Slow postnatal growth; Microcephaly, postnatal, progressive; Poor eye contact; BruxismTongue thrustingSialorrhea; Abnormal breathing patterns; Gastroesophageal refluxConstipation; ScoliosisKyphosis; Genu valgu; Pes planusEquinovarus; Mental retardation, severeNeonatal hypotoniaNeonatal irresponsivenessNeonatal irritabilityDelayed motor developmentDevelopmental regression before age 6 monthsApraxiaSeizuresJerky limb movementsStereotypic movementsSpasticityDyskinesiaChoreaAthetosisDystoniaLack of speech developmentImpaired social interactionAbnormal sleep patternsEEG abnormalitiesEEG shows with a multifocal pattern with spikes and sharp wavesCorpus callosum hypoplasiaDelayed myelinationSimplified gyral patternReduced white matter volumePachygyria]
FOXG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert