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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>UNC80 deficiency, as its name suggests, is caused by mutations in the UNC80 gene. This gene provides instructions for making a large protein that is part of the NALCN sodium channel complex (channelosome). Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell&#x27;s ability to generate and transmit electrical signals. In particular, the NALCN channelosome is important in nerve cells (neurons), helping to regulate their activity level (excitability). In addition to forming part of the structure of the NALCN channelosome, UNC80 also helps locate and stabilize it in the cell membrane of neurons.</p><p>UNC80 gene mutations result in absence of the UNC80 protein or production of an abnormal protein. Absence of functional UNC80 protein impairs the stability and function of the NALCN channelosome. Neuron excitability is thought to be improperly regulated as a result, but it is unclear how these changes cause the specific features of UNC80 deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/unc80-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes UNC80 deficiency?"},{"bodyHtml":"<p>People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally weak (hypotonia), but affected individuals may have increased muscle tone (hypertonia) in the arms and legs. Most people with this disorder never learn to walk. Some affected individuals have feeding difficulties because hypotonia leads to problems controlling movements of the mouth. Speech is also generally absent, although in some cases individuals have limited communication using body language, gestures, and signs. Seizures, involuntary side-to-side movements of the eyes (nystagmus), eyes that do not point in the same direction (strabismus), and a high-pitched cry can also occur in this disorder.</p><p>People with UNC80 deficiency are of normal size at birth but grow slowly during infancy and childhood. Unusual facial features typically occur in this disorder, and vary among affected individuals. These features can include a wide, short skull (brachycephaly); a triangular face shape with a prominent forehead (frontal bossing); droopy eyelids (ptosis); folds of skin covering the inner corners of the eyes (epicanthal folds); outside corners of the eyes that point downward (downslanting palpebral fissures); a nose with a prominent bridge and a bulbous or upturned tip; a short, smooth space between the upper lip and nose (philtrum); a mouth that remains open; and low-set ears. Other physical differences that can occur in people with UNC80 deficiency include a short neck, abnormal curvature of the spine (scoliosis), permanently bent joints (contractures), and inward- and upward-turning feet (clubfeet).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/unc80-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"unc80-deficiency","sourceDocuments":[{"name":"UNC80 deficiency","reviewed":"2017-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:39.226327+00:00","label":"Causes","pageSha256":"3d9a3aaa41b9b4d72c3a7c7c06ad634fbd8a3c2b8f377c1c2d421b98161f0292","sourceUrl":"https://medlineplus.gov/genetics/condition/unc80-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/unc80-deficiency"}],"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":"UNC80 deficiency"},"schemaVersion":1}