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Egenskaper
Egenskaper kopplade till IFT27
intraflagellar transport 27
Human Phenotype Ontology kopplar 113 egenskaper till IFT27, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.
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Abnormality of the genitourinary system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormality of the genitourinary system | Ofta (30–79 %) |
| Chronic kidney disease | Ofta (30–79 %) |
| Underdeveloped ovary | Ofta (30–79 %) |
| Underdeveloped penis | Ofta (30–79 %) |
| Absent/small vagina | Ibland (5–29 %) |
| Decreased testicular size | Ibland (5–29 %) |
| Horseshoe kidney | Ibland (5–29 %) |
| Hydrometrocolpos | Ibland (5–29 %) |
| Hydronephrosis | Ibland (5–29 %) |
| Infertility | Ibland (5–29 %) |
| Lack of bladder control due to nervous system injury | Ibland (5–29 %) |
| Menstrual irregularity | Ibland (5–29 %) |
| Multiple kidney cysts | Ibland (5–29 %) |
| Nephrotic syndrome | Ibland (5–29 %) |
| Polycystic ovaries | Ibland (5–29 %) |
| Renal failure | Ibland (5–29 %) |
| Small kidneys | Ibland (5–29 %) |
| Undescended testes | Ibland (5–29 %) |
| Vesicoureteral reflux | Ibland (5–29 %) |
| Underdevelopment of external reproductive organs | Inte registrerat |
Abnormality of the nervous system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Delayed ability to walk | Alltid |
| Delayed speech and language development | Alltid |
| Global developmental delay | Alltid |
| Underdevelopment of part of brain called corpus callosum | Alltid |
| Neurodevelopmental delay | Mycket ofta (80–99 %) |
| Autism | Ofta (30–79 %) |
| Behavioral abnormality | Ofta (30–79 %) |
| Cognitive impairment | Ofta (30–79 %) |
| Depression | Ofta (30–79 %) |
| Short attention span | Ofta (30–79 %) |
| Specific learning disability | Ofta (30–79 %) |
| Abnormal speech pattern | Ibland (5–29 %) |
| Anxiety | Ibland (5–29 %) |
| Ataxia | Ibland (5–29 %) |
| Breathy speech | Ibland (5–29 %) |
| Can't control feelings | Ibland (5–29 %) |
| Epilepsy | Ibland (5–29 %) |
| Intellectual disability | Ibland (5–29 %) |
Abnormality of the eye
| Egenskap | Hur ofta den förekommer |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Alltid |
| Close sighted | Alltid |
| Cone/cone-rod dystrophy | Alltid |
| Exodeviation | Alltid |
| Rod-cone dystrophy | Alltid |
| Abnormal color vision | Ofta (30–79 %) |
| Abnormal electroretinogram | Ofta (30–79 %) |
| Blindness | Ofta (30–79 %) |
| Decreased clarity of vision | Ofta (30–79 %) |
| Difficulties with night vision | Ofta (30–79 %) |
| Extreme sensitivity of the eyes to light | Ofta (30–79 %) |
| Involuntary, rapid, rhythmic eye movements | Ofta (30–79 %) |
| Astigmatism | Ibland (5–29 %) |
| Clouding of the lens of the eye | Ibland (5–29 %) |
| Cross-eyed | Ibland (5–29 %) |
| Wide-set eyes | Ibland (5–29 %) |
Abnormality of head or neck
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormality of the oral cavity | Ofta (30–79 %) |
| Abnormality of the sense of smell | Ofta (30–79 %) |
| Dental crowding | Ofta (30–79 %) |
| Failure of development of between one and six teeth | Ofta (30–79 %) |
| High palate | Ofta (30–79 %) |
| Decreased size of tooth | Ibland (5–29 %) |
| Depressed nasal bridge | Ibland (5–29 %) |
| Downward slanting of the opening between the eyelids | Ibland (5–29 %) |
| Long philtrum | Ibland (5–29 %) |
| Medial flaring of the eyebrow | Ibland (5–29 %) |
| Nasal inflammation | Ibland (5–29 %) |
| Prominent nasal bridge | Ibland (5–29 %) |
| Receding chin | Ibland (5–29 %) |
| Short neck | Ibland (5–29 %) |
| Hyposmia | Inte registrerat |
Abnormality of limbs
| Egenskap | Hur ofta den förekommer |
|---|---|
| Extra toe attached near the little toe | Alltid |
| Mesoaxial hand polydactyly | Alltid |
| Y-shaped long bone of hand | Alltid |
| Postaxial polydactyly | Mycket ofta (80–99 %) |
| Short fingers or toes | Ofta (30–79 %) |
| Club feet | Ibland (5–29 %) |
| Finger syndactyly | Ibland (5–29 %) |
| Webbed fingers or toes | Ibland (5–29 %) |
| Curvature of outermost bone of little finger | Sällan (1–4%) |
Abnormality of the cardiovascular system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Partial atrioventricular canal defect | Alltid |
| High blood pressure | Ofta (30–79 %) |
| Abnormality of the heart | Ibland (5–29 %) |
| An opening in the wall separating the top two chambers of the heart | Ibland (5–29 %) |
| Hole in heart wall separating two lower heart chambers | Ibland (5–29 %) |
| Patent ductus arteriosus | Ibland (5–29 %) |
| Underdeveloped left heart | Ibland (5–29 %) |
| Disease of the heart muscle | Sällan (1–4%) |
Laboratory abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Ofta (30–79 %) |
| High liver enzymes | Ofta (30–79 %) |
| Impaired fasting glucose | Ofta (30–79 %) |
| Increased plasma triglycerides | Ofta (30–79 %) |
| Body fails to respond to insulin | Ibland (5–29 %) |
| Fatty infiltration of liver | Ibland (5–29 %) |
| Noninsulin-dependent diabetes | Ibland (5–29 %) |
Abnormality of the digestive system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormality of the gastrointestinal tract | Ibland (5–29 %) |
| Hepatic fibrosis | Ibland (5–29 %) |
| Celiac disease | Sällan (1–4%) |
| Enlarged colon lacking nerve cells | Sällan (1–4%) |
| Inflammation of the large intestine | Sällan (1–4%) |
Abnormality of the ear
| Egenskap | Hur ofta den förekommer |
|---|---|
| Ears rotated toward back of head | Ibland (5–29 %) |
| Hearing impairment | Ibland (5–29 %) |
| Large ears | Ibland (5–29 %) |
| Middle ear infection | Ibland (5–29 %) |
Abnormality of the endocrine system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Decreased activity of gonads | Ofta (30–79 %) |
| Abnormality of the endocrine system | Ibland (5–29 %) |
| Underactive thyroid | Ibland (5–29 %) |
Abnormality of the musculoskeletal system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Double-Jointed | Ibland (5–29 %) |
| Involuntary muscle stiffness, contraction, or spasm | Ibland (5–29 %) |
| Muscle degeneration | Ibland (5–29 %) |
Growth abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Obesity | Alltid |
| Childhood-onset truncal obesity | Mycket ofta (80–99 %) |
| Short stature | Ofta (30–79 %) |
Abnormality of the immune system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Asthma | Ibland (5–29 %) |
Abnormality of the integument
| Egenskap | Hur ofta den förekommer |
|---|---|
| Excessive hairiness over body | Ibland (5–29 %) |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till IFT27 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.
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