Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":2,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":2,"sourceGroups":{"omim":0,"orphanet":0,"published":2}},"features":[{"hpoId":"HP:0011003","label":"High myopia","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false}],"ledeHtml":"Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).","mondoId":"MONDO:0009082","records":[{"frequencyKind":"count","key":"07e48fffd709f7fb3bf0e3d53c9fdebd5de3d30e2de5639eb61591b14916c8fb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:221200","disease_name":"Deafness and myopia","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0011003","is_excluded":false,"label":"High myopia","onset_id":null,"reference":"PMID:23543054","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1b41a36de8c5ced92f3a62f9d4808b06b2ae240a54e7fe9aaacef3daf673c2a4","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:221200","disease_name":"Deafness and myopia","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:23543054","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function.
SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.
","key":"forms","title":"What causes Deafness and myopia syndrome?"},{"bodyHtml":"Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"deafness-and-myopia-syndrome","sourceDocuments":[{"name":"Deafness and myopia syndrome","reviewed":"2015-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:52.091272+00:00","label":"Causes","pageSha256":"2300a4cb21112d95266c03aa5379ceb119a8afa7c3fc57ee8722e83caddaec64","sourceUrl":"https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Deafness and myopia syndrome"},"schemaVersion":1}