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- W4384343246 abstract "Abstract Neurodevelopmental Disorder with Hearing Loss and Spasticity; NEDHLS is recently defined autosomal recessive inherited genetic disease characterized by intellectual disability, spastic-dystonic cerebral palsy features, deafness and epilepsy. Until now, totally 48 individuals with SPATA5L1(AFG2B) variant from have been identified, including our individual we presented and approximately half of them have had microcephaly, epileptic seizures, cerebral palsy features. This gene improves normal brain and inner ear morphology and functions. As a consequence of damages on SPATA5L1(AFG2B) gene, cortical atrophy, loss of brain volume, periventricular leukomalacia and corpus callosum abnormalities are determined in brain MRG, and then sensorineural hearing loss clinically. Symptoms and signs resulted from NEDHLS associated with SPATA5L1(AFG2B) variant may mimic cerebral palsy. Here, we present a 4-year-old female patient with a novel homozygous SPATA5L1(AFG2B) variant by WES re-analysis performed in 2022, who was followed up with a diagnosis of cerebral palsy that could not be diagnosed with WES in 2020." @default.
- W4384343246 created "2023-07-15" @default.
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- W4384343246 date "2023-07-14" @default.
- W4384343246 modified "2023-09-25" @default.
- W4384343246 title "A patient with novel homozygous SPATA5L1(AFG2B) variant related to severe neuromotor delay, spasticity by whole exome re-analysis" @default.
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- W4384343246 doi "https://doi.org/10.21203/rs.3.rs-3141167/v1" @default.
- W4384343246 hasPublicationYear "2023" @default.
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