Article

A patient with novel homozygous SPATA5L1(AFG2B) variant related to severe neuromotor delay, spasticity by whole exome re-analysis

2023-07-14

Abstract excerpt

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 microce...

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Literature Corpus work: 21d9881e-6412-5bc2-a156-d6c234c18d66
DOI: 10.21203/rs.3.rs-3141167/v1

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