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Traits
Traits linked to FGF8
fibroblast growth factor 8
The Human Phenotype Ontology links 180 traits to FGF8, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
Abnormality of head or neck
| Trait | Hvor ofte den forekommer |
|---|---|
| Blockage of the rear opening of the nasal cavity | Svært ofte (80–99 %) |
| Hyposmia | Svært ofte (80–99 %) |
| Lost smell | Svært ofte (80–99 %) |
| Midnasal stenosis | Svært ofte (80–99 %) |
| Only one upper front tooth | Svært ofte (80–99 %) |
| Abnormally small head | Ofte (30–79 %) |
| Bifid uvula | Ofte (30–79 %) |
| Central cleft upper lip | Ofte (30–79 %) |
| Cleft palate | Ofte (30–79 %) |
| Flat nose | Ofte (30–79 %) |
| High palate | Ofte (30–79 %) |
| Narrow nasal bridge | Ofte (30–79 %) |
| Short philtrum | Ofte (30–79 %) |
| Tented mouth | Ofte (30–79 %) |
| Abnormal dentition | Noen ganger (5–29 %) |
| Big calvaria | Noen ganger (5–29 %) |
| Cleft lip | Noen ganger (5–29 %) |
| Cleft of the mouth | Noen ganger (5–29 %) |
| Decreased number of teeth | Noen ganger (5–29 %) |
| Depressed nasal bridge | Noen ganger (5–29 %) |
| Frontoethmoidal encephalocele | Noen ganger (5–29 %) |
| Mono nostril | Noen ganger (5–29 %) |
| Nasal tip, upturned | Noen ganger (5–29 %) |
| Proboscis | Noen ganger (5–29 %) |
| Short nose | Noen ganger (5–29 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte den forekommer |
|---|---|
| Decreased testicular size | Alltid |
| Primary amenorrhea | Alltid |
| Short penis | Alltid |
| Abnormal erection | Svært ofte (80–99 %) |
| Absent sperm in semen | Svært ofte (80–99 %) |
| Decreased fertility | Svært ofte (80–99 %) |
| Difficulty getting a full erection | Svært ofte (80–99 %) |
| Increased female sex drive | Svært ofte (80–99 %) |
| Non-obstructive azoospermia | Svært ofte (80–99 %) |
| Underdeveloped penis | Svært ofte (80–99 %) |
| Undescended testes | Svært ofte (80–99 %) |
| Previous menstrual periods stop | Ofte (30–79 %) |
| Small uterus | Ofte (30–79 %) |
| Underdeveloped ovary | Ofte (30–79 %) |
| Abnormal morphology of female internal genitalia | Noen ganger (5–29 %) |
| Abnormality of the genitourinary system | Noen ganger (5–29 %) |
| Absent kidney | Noen ganger (5–29 %) |
| Ambiguous external genitalia | Noen ganger (5–29 %) |
| Dyspareunia | Noen ganger (5–29 %) |
| Infertility | Noen ganger (5–29 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Delayed bone maturation | Svært ofte (80–99 %) |
| Abnormal vertebral morphology | Ofte (30–79 %) |
| Abnormality of the ribs | Ofte (30–79 %) |
| Decreased muscle tone in infant | Ofte (30–79 %) |
| Generalized decreased muscle tone | Ofte (30–79 %) |
| Involuntary muscle stiffness, contraction, or spasm | Ofte (30–79 %) |
| Low solidness and mass of the bones | Ofte (30–79 %) |
| Osteopenia | Ofte (30–79 %) |
| Osteoporosis | Ofte (30–79 %) |
| Abnormal skeletal development | Noen ganger (5–29 %) |
| Abnormality of the skeletal system | Noen ganger (5–29 %) |
| EMG: myopathic abnormalities | Noen ganger (5–29 %) |
| Flexed joint that cannot be straightened | Noen ganger (5–29 %) |
| Hypermobility of all joints | Noen ganger (5–29 %) |
| Low muscle tone | Noen ganger (5–29 %) |
| Low muscle tone in trunk | Noen ganger (5–29 %) |
| Muscle weakness | Noen ganger (5–29 %) |
| Permanent flexion of the finger or toe | Noen ganger (5–29 %) |
| Recurrent fractures | Noen ganger (5–29 %) |
| Scoliosis | Noen ganger (5–29 %) |
Abnormality of the endocrine system
| Trait | Hvor ofte den forekommer |
|---|---|
| Hypogonadotropic hypogonadism | Alltid |
| Absence of pubertal development | Svært ofte (80–99 %) |
| Absence of secondary sex characteristics | Svært ofte (80–99 %) |
| Anterior hypopituitarism | Svært ofte (80–99 %) |
| Decreased function of male gonad | Svært ofte (80–99 %) |
| Decreased serum testosterone level | Svært ofte (80–99 %) |
| Delayed puberty | Svært ofte (80–99 %) |
| Female hypogonadism | Svært ofte (80–99 %) |
| Gonadotropin-releasing hormone deficiency | Svært ofte (80–99 %) |
| Abnormal hypothalamus physiology | Ofte (30–79 %) |
| Abnormality of the endocrine system | Ofte (30–79 %) |
| Central diabetes insipidus | Ofte (30–79 %) |
| Diabetes insipidus | Ofte (30–79 %) |
| Early onset of puberty | Ofte (30–79 %) |
| Central hypothyroidism | Noen ganger (5–29 %) |
| Decreased response to growth hormone stimulation test | Noen ganger (5–29 %) |
| Panhypopituitarism | Noen ganger (5–29 %) |
| Underactive thyroid | Noen ganger (5–29 %) |
| Small pituitary gland | Ikke registrert |
Abnormality of the eye
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of the eye | Svært ofte (80–99 %) |
| Abnormally close eyes | Svært ofte (80–99 %) |
| Cerebral visual impairment | Ofte (30–79 %) |
| Abnormal color vision | Noen ganger (5–29 %) |
| Cat eye | Noen ganger (5–29 %) |
| Cross-eyed | Noen ganger (5–29 %) |
| Cyclops eye | Noen ganger (5–29 %) |
| Drooping upper eyelid | Noen ganger (5–29 %) |
| Involuntary, rapid, rhythmic eye movements | Noen ganger (5–29 %) |
| Visual impairment | Noen ganger (5–29 %) |
| Wide-set eyes | Noen ganger (5–29 %) |
Abnormality of the digestive system
| Trait | Hvor ofte den forekommer |
|---|---|
| Feeding difficulties | Svært ofte (80–99 %) |
| Poor suck | Svært ofte (80–99 %) |
| Acid reflux | Ofte (30–79 %) |
| Constipation | Ofte (30–79 %) |
| Poor swallowing | Ofte (30–79 %) |
| Vomiting | Ofte (30–79 %) |
| Abnormal shape of the digestive system | Noen ganger (5–29 %) |
| Absence or narrowing of first part of small bowel | Noen ganger (5–29 %) |
| Anteriorly placed anus | Noen ganger (5–29 %) |
| Gastrostomy tube feeding in infancy | Noen ganger (5–29 %) |
Growth abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Eunuchoid habitus | Svært ofte (80–99 %) |
| Faltering weight | Svært ofte (80–99 %) |
| Growth delay | Svært ofte (80–99 %) |
| Short stature | Svært ofte (80–99 %) |
| Abnormality of body height | Ofte (30–79 %) |
| Prenatal growth deficiency | Ofte (30–79 %) |
| Obesity | Noen ganger (5–29 %) |
Abnormality of the cardiovascular system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal cardiovascular system morphology | Noen ganger (5–29 %) |
| Abnormal heart rate variability | Noen ganger (5–29 %) |
| Abnormality of the heart | Noen ganger (5–29 %) |
| Narrowing of aorta | Noen ganger (5–29 %) |
| Strawberry mark | Noen ganger (5–29 %) |
| Tetralogy of Fallot | Noen ganger (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of limbs | Noen ganger (5–29 %) |
| Dropped arches | Noen ganger (5–29 %) |
| High-arched foot | Noen ganger (5–29 %) |
| Hip dislocation | Noen ganger (5–29 %) |
Abnormality of the integument
| Trait | Hvor ofte den forekommer |
|---|---|
| Limited armpit hair | Alltid |
| Sparse pubic hair | Alltid |
| Sparse body hair | Svært ofte (80–99 %) |
| Ichthyosis | Noen ganger (5–29 %) |
Abnormality of the breast
| Trait | Hvor ofte den forekommer |
|---|---|
| Underdeveloped breasts | Svært ofte (80–99 %) |
| Wide-spaced nipples | Svært ofte (80–99 %) |
| Enlarged male breast | Ofte (30–79 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal pattern of respiration | Ofte (30–79 %) |
| Central apnea | Ofte (30–79 %) |
| Chronic lung disease | Ofte (30–79 %) |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Sensorineural hearing impairment | Ofte (30–79 %) |
| Congenital sensorineural hearing impairment | Noen ganger (5–29 %) |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Aspiration pneumonia | Ofte (30–79 %) |
| Asthma | Noen ganger (5–29 %) |
Abnormality of prenatal development or birth
| Trait | Hvor ofte den forekommer |
|---|---|
| Premature birth | Ofte (30–79 %) |
Abnormality of the voice
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of the voice | Svært ofte (80–99 %) |
Laboratory abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Temperature instability | Ofte (30–79 %) |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to FGF8 and how often each is seen. Find out more at hpo.jax.org.
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