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.
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syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0006610","is_excluded":false,"label":"Wide intermamillary distance","onset_id":null,"reference":"PMID:26173930","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fe53956b53018e4cb5dcf3cfaabc5154be2d347692ed580e78af922212c93381","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:453504","disease_name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004443","is_excluded":false,"label":"Lambdoidal craniosynostosis","onset_id":null,"reference":"ORPHA:453504","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffeba2b9947556b6e2b56642a0b38fec875fcf02511106032cfb914195cb0eb5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:453504","disease_name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000589","is_excluded":false,"label":"Coloboma","onset_id":null,"reference":"ORPHA:453504","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Au-Kline syndrome is caused by mutations in the HNRNPK gene. The protein produced from this gene, called heterogenous nuclear ribonucleoprotein K (hnRNP K), attaches (binds) to DNA or its chemical cousin RNA and to other proteins, acting as a docking station for these molecules so they can interact. By bringing certain proteins together with DNA or RNA, the hnRNP K protein helps control the activity of genes and the production of proteins. By regulating certain genes and proteins, the hnRNP K protein plays a role in the normal development and function of several body systems, including the brain.
HNRNPK gene mutations that cause Au-Kline syndrome result in the production of little or no hnRNP K protein. A shortage of this protein alters gene activity and protein production, which disrupts the normal development or functioning of several body systems, resulting in the varied features of Au-Kline syndrome. In particular, problems with brain development likely contribute to intellectual disability, delayed development, and other neurological problems in people with the condition.
","key":"forms","title":"What causes Au-Kline syndrome?"},{"bodyHtml":"Individuals with Au-Kline syndrome can have distinctive facial features, including long openings of the eyelids (long palpebral fissures), drooping eyelids (ptosis), and shallow eye sockets. Other common facial features in this condition include a broad nasal bridge, a mouth with the outer corners turned downward and often held in an open position, and a deep groove down the middle of the tongue. Less common abnormalities include premature joining of certain skull bones (craniosynostosis) in affected infants, an opening or unusually high arch in the roof of the mouth (cleft or high-arched palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and missing teeth (oligodontia).
Malformations of the heart, blood vessels, kidneys, or bones can also occur in people with Au-Kline syndrome. For example, in some affected individuals, the large blood vessel that distributes blood from the heart to the rest of the body (the aorta) becomes weakened and stretched (aortic dilatation), which can be life-threatening. Some people with Au-Kline syndrome have an abnormal curvature of the spine (scoliosis). In addition, affected individuals may have difficulty feeding or poor vision.
Au-Kline syndrome can sometimes affect the autonomic nervous system, which controls involuntary body functions, such as digestion and regulation of body temperature. In people with Au-Kline syndrome, abnormalities in this system can lead to digestive problems, difficulty feeling pain, abnormal sweating, and an inability to adjust to high heat in people with Au-Kline syndrome.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"au-kline-syndrome","sourceDocuments":[{"name":"Au-Kline syndrome","reviewed":"2019-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:35.769955+00:00","label":"Causes","pageSha256":"6badbc87eac255c3c7b206017a2962bff2bc57b8b521337a3bb0cfd1514b6cad","sourceUrl":"https://medlineplus.gov/genetics/condition/au-kline-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/au-kline-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":"Au-Kline syndrome"},"schemaVersion":1}