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column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0014858/OMIM:616977"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>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.</p>"},"coverage":{"countRecords":116,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":118,"sourceGroups":{"omim":2,"orphanet":0,"published":116}},"features":[{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0000002","label":"Abnormality of body height","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0000646","label":"Amblyopia","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0002186","label":"Apraxia","primary":false},{"hpoId":"HP:0011333","label":"Asymmetric crying face","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0009907","label":"Attached 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control","primary":false},{"hpoId":"HP:0011451","label":"Primary microcephaly","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000448","label":"Prominent nose","primary":false},{"hpoId":"HP:0001642","label":"Pulmonic stenosis","primary":false},{"hpoId":"HP:0011110","label":"Recurrent tonsillitis","primary":false},{"hpoId":"HP:0034295","label":"Reduced cerebral white matter volume","primary":false},{"hpoId":"HP:0000278","label":"Retrognathia","primary":false},{"hpoId":"HP:0000960","label":"Sacral dimple","primary":false},{"hpoId":"HP:0005484","label":"Secondary microcephaly","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000736","label":"Short attention span","primary":false},{"hpoId":"HP:0000331","label":"Short chin","primary":false},{"hpoId":"HP:0000322","label":"Short philtrum","primary":false},{"hpoId":"HP:0004322","label":"Short 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callosum","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0001308","label":"Tongue fasciculations","primary":false},{"hpoId":"HP:0032792","label":"Tonic seizure","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0001537","label":"Umbilical hernia","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral fissure","primary":false},{"hpoId":"HP:0000154","label":"Wide mouth","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false}],"ledeHtml":"HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>HIVEP2-related intellectual disability is caused by mutations in the HIVEP2 gene. The protein produced from this gene is most abundant in the brain, where it controls the activity (expression) of genes involved in brain growth and development.</p><p>Mutations in the HIVEP2 gene are thought to lead to a shortage of functional HIVEP2 protein. It is unclear how these genetic changes result in the features associated with HIVEP2-related intellectual disability, although researchers speculate that a shortage of the HIVEP2 protein alters the expression of several genes involved in brain growth and development. Abnormalities in the growth and development of the brain likely underlie the cognitive problems and other neurological features of HIVEP2-related intellectual disability. It is unclear how HIVEP2 gene mutations contribute to the unusual physical features and health problems that can occur with this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes HIVEP2-related intellectual disability?"},{"bodyHtml":"<p>Other features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), &quot;lazy eye&quot; (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hivep2-related-intellectual-disability","sourceDocuments":[{"name":"HIVEP2-related intellectual disability","reviewed":"2017-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:14.609615+00:00","label":"Causes","pageSha256":"a0823127e66a17ea686fc3e7213750d7f189306e60781bdab1de489c3e587dfa","sourceUrl":"https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability"}],"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":"HIVEP2-related intellectual disability"},"schemaVersion":1}