AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Egenskaper
Egenskaper kopplade till IFT74
intraflagellar transport 74
Human Phenotype Ontology kopplar 144 egenskaper till IFT74, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Abnormality of the nervous system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Delayed speech and language development | Alltid |
| Global developmental delay | Alltid |
| Increased appetite | Alltid |
| Intellectual disability | Alltid |
| Molar tooth sign on MRI | Alltid |
| Motor delay | Alltid |
| Ataxia | Mycket ofta (80–99 %) |
| Cerebellar vermis hypoplasia | Mycket ofta (80–99 %) |
| Neurodevelopmental delay | Mycket ofta (80–99 %) |
| Abnormal gait | Ofta (30–79 %) |
| 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 %) |
| Abnormality of neuronal migration | Ibland (5–29 %) |
| Anxiety | Ibland (5–29 %) |
| Aplasia/Hypoplasia of the corpus callosum | Ibland (5–29 %) |
| Breathy speech | Ibland (5–29 %) |
| Can't control feelings | Ibland (5–29 %) |
| Epilepsy | Ibland (5–29 %) |
| More grooves in brain | Ibland (5–29 %) |
| Too much cerebrospinal fluid in the brain | Ibland (5–29 %) |
| Tremor | Ibland (5–29 %) |
Abnormality of head or neck
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormally small head | Alltid |
| Almond shaped eyes | Alltid |
| Big calvaria | Alltid |
| Depressed nasal bridge | Alltid |
| Abnormality of the oral cavity | Ofta (30–79 %) |
| Abnormality of the sense of smell | Ofta (30–79 %) |
| Decreased width of the skull | 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 %) |
| Long face | Ofta (30–79 %) |
| Cleft of the mouth | Ibland (5–29 %) |
| Decreased size of tooth | Ibland (5–29 %) |
| Downward slanting of the opening between the eyelids | Ibland (5–29 %) |
| Encephalocele | Ibland (5–29 %) |
| Highly arched eyebrow | Ibland (5–29 %) |
| Long philtrum | Ibland (5–29 %) |
| Medial flaring of the eyebrow | Ibland (5–29 %) |
| Nasal inflammation | Ibland (5–29 %) |
| Nasal tip, upturned | Ibland (5–29 %) |
| Prominent nasal bridge | Ibland (5–29 %) |
| Receding chin | Ibland (5–29 %) |
| Short neck | Ibland (5–29 %) |
Abnormality of the genitourinary system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Irregularly shaped sperm tail | Alltid |
| Male infertility | Alltid |
| Short sperm flagella | Alltid |
| Abnormality of the genitourinary system | Ofta (30–79 %) |
| Chronic kidney disease | Ofta (30–79 %) |
| Immotile sperm | Ofta (30–79 %) |
| Low sperm count | Ofta (30–79 %) |
| Reduced progressive sperm motility | 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 %) |
| Undescended testes | Ibland (5–29 %) |
| Vesicoureteral reflux | Ibland (5–29 %) |
Abnormality of the eye
| Egenskap | Hur ofta den förekommer |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Alltid |
| Macular hypopigmentation | Alltid |
| Rod-cone dystrophy | Alltid |
| Visual impairment | Alltid |
| Cone/cone-rod dystrophy | Mycket ofta (80–99 %) |
| Oculomotor apraxia | Mycket ofta (80–99 %) |
| 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 %) |
| Optic nerve hypoplasia | Ofta (30–79 %) |
| Astigmatism | Ibland (5–29 %) |
| Cat eye | Ibland (5–29 %) |
| Clouding of the lens of the eye | Ibland (5–29 %) |
| Cross-eyed | Ibland (5–29 %) |
| Drooping upper eyelid | Ibland (5–29 %) |
| Wide-set eyes | Ibland (5–29 %) |
Abnormality of limbs
| Egenskap | Hur ofta den förekommer |
|---|---|
| Extra toe attached near the little toe | Alltid |
| More than five fingers or toes on hands or feet | Alltid |
| Postaxial polydactyly | Alltid |
| Short fingers or toes | Ofta (30–79 %) |
| Club feet | Ibland (5–29 %) |
| Duplication of bones of the toes | Ibland (5–29 %) |
| Extra finger | 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%) |
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 |
|---|---|
| Feeding difficulties in infancy | Ofta (30–79 %) |
| Abnormality of the gastrointestinal tract | Ibland (5–29 %) |
| Enlarged colon lacking nerve cells | Ibland (5–29 %) |
| Hepatic fibrosis | Ibland (5–29 %) |
| Celiac disease | Sällan (1–4%) |
| Inflammation of the large intestine | Sällan (1–4%) |
Abnormality of the musculoskeletal system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Low muscle tone | Alltid |
| Abnormal vertebral body morphology | Ibland (5–29 %) |
| Double-Jointed | Ibland (5–29 %) |
| Involuntary muscle stiffness, contraction, or spasm | Ibland (5–29 %) |
| Muscle degeneration | Ibland (5–29 %) |
| Scoliosis | Ibland (5–29 %) |
Abnormality of the cardiovascular system
| Egenskap | Hur ofta den förekommer |
|---|---|
| High blood pressure | Ofta (30–79 %) |
| Abnormal cardiovascular system morphology | Ibland (5–29 %) |
| Abnormality of the heart | Ibland (5–29 %) |
| All organs on wrong side of body | Ibland (5–29 %) |
| Disease of the heart muscle | 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 %) |
| Low-set ears | Ibland (5–29 %) |
| Middle ear infection | Ibland (5–29 %) |
Abnormality of the endocrine system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Decreased activity of gonads | Alltid |
| Abnormality of the endocrine system | Ibland (5–29 %) |
| Abnormality of the hypothalamus-pituitary axis | Ibland (5–29 %) |
| Underactive thyroid | Ibland (5–29 %) |
Growth abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Birth weight > 90th percentile | Alltid |
| Obesity | Alltid |
| Childhood-onset truncal obesity | Mycket ofta (80–99 %) |
| Short stature | Ofta (30–79 %) |
Abnormality of the respiratory system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormal pattern of respiration | Mycket ofta (80–99 %) |
| Apnea | Mycket ofta (80–99 %) |
| Episodic tachypnea | Mycket ofta (80–99 %) |
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 IFT74 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Ett test. Ett helt liv av svar.
Från 449 $Fri frakt · Resultat inom 6–8 veckor