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syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"ORPHA:85163","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract\">Hypomyelination and congenital cataract</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the HYCC1 gene cause hypomyelination and congenital cataract. The HYCC1 gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how variants in the HYCC1 gene cause cataracts.</p><p>Most HYCC1 gene variants that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition.</p><p>People who have variants that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hypomyelination and congenital cataract?"},{"bodyHtml":"<p>People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hypomyelination-and-congenital-cataract","sourceDocuments":[{"name":"Hypomyelination and congenital cataract","reviewed":"2009-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:22.904220+00:00","label":"Causes","pageSha256":"f708dcfcb9f0819fb8b7d8d127bfda30dc393376ebb6840c4dbe777ae29399c6","sourceUrl":"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract"}],"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":"Hypomyelination and congenital cataract"},"schemaVersion":1}