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Autosomal recessive nonsyndromic hearing loss 35

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. [from MONDO]

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Disease or Syndrome

Glycosylphosphatidylinositol biosynthesis defect 17

Glycosylphosphatidylinositol biosynthesis defect-17 (GPIBD17) is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

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