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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.

Abnormality of the nervous system

TraitMilyen gyakran fordul elő
Abnormal central motor functionGyakran (30–79%)
Abnormal corpus callosum morphologyGyakran (30–79%)
Abnormal morphology of the olfactory bulbGyakran (30–79%)
Abnormal shape of brainstemGyakran (30–79%)
Abnormal shape of midbrainGyakran (30–79%)
Abnormality of the autonomic nervous systemGyakran (30–79%)
Absent speech developmentGyakran (30–79%)
AnxietyGyakran (30–79%)
Aplasia of the falx cerebriGyakran (30–79%)
Attention deficitGyakran (30–79%)
Behavioral abnormalityGyakran (30–79%)
Communication delayGyakran (30–79%)
DepressionGyakran (30–79%)
EpilepsyGyakran (30–79%)
ImpulsivityGyakran (30–79%)
Inability to walkGyakran (30–79%)
Intellectual disabilityGyakran (30–79%)
IrritabilityGyakran (30–79%)
Lack of feeling, emotion, interestGyakran (30–79%)
LethargyGyakran (30–79%)
Limb dystoniaGyakran (30–79%)
Neural tube defectGyakran (30–79%)
Oromotor apraxiaGyakran (30–79%)
Poor speechGyakran (30–79%)
Short attention spanGyakran (30–79%)
Sleep-wake cycle disturbanceGyakran (30–79%)
Specific learning disabilityGyakran (30–79%)
Abnormal gaitNéha (5–29%)
Abnormal septum pellucidum morphologyNéha (5–29%)
Agenesis of corpus callosumNéha (5–29%)
AtaxiaNéha (5–29%)
Difficulty articulating speechNéha (5–29%)
Enlarged brainNéha (5–29%)
Hand mirror movementsNéha (5–29%)
HoloprosencephalyNéha (5–29%)
Hypoplasia of the ponsNéha (5–29%)
Leg paralysisNéha (5–29%)
Perisylvian polymicrogyriaNéha (5–29%)
RhombencephalosynapsisNéha (5–29%)
Too much cerebrospinal fluid in the brainNéha (5–29%)
TremorNéha (5–29%)

Abnormality of head or neck

TraitMilyen gyakran fordul elő
Blockage of the rear opening of the nasal cavityNagyon gyakran (80–99%)
HyposmiaNagyon gyakran (80–99%)
Lost smellNagyon gyakran (80–99%)
Midnasal stenosisNagyon gyakran (80–99%)
Only one upper front toothNagyon gyakran (80–99%)
Abnormally small headGyakran (30–79%)
Bifid uvulaGyakran (30–79%)
Central cleft upper lipGyakran (30–79%)
Cleft palateGyakran (30–79%)
Flat noseGyakran (30–79%)
High palateGyakran (30–79%)
Narrow nasal bridgeGyakran (30–79%)
Short philtrumGyakran (30–79%)
Tented mouthGyakran (30–79%)
Abnormal dentitionNéha (5–29%)
Big calvariaNéha (5–29%)
Cleft lipNéha (5–29%)
Cleft of the mouthNéha (5–29%)
Decreased number of teethNéha (5–29%)
Depressed nasal bridgeNéha (5–29%)
Frontoethmoidal encephaloceleNéha (5–29%)
Mono nostrilNéha (5–29%)
Nasal tip, upturnedNéha (5–29%)
ProboscisNéha (5–29%)
Short noseNéha (5–29%)

Abnormality of the genitourinary system

TraitMilyen gyakran fordul elő
Decreased testicular sizeMindig
Primary amenorrheaMindig
Short penisMindig
Abnormal erectionNagyon gyakran (80–99%)
Absent sperm in semenNagyon gyakran (80–99%)
Decreased fertilityNagyon gyakran (80–99%)
Difficulty getting a full erectionNagyon gyakran (80–99%)
Increased female sex driveNagyon gyakran (80–99%)
Non-obstructive azoospermiaNagyon gyakran (80–99%)
Underdeveloped penisNagyon gyakran (80–99%)
Undescended testesNagyon gyakran (80–99%)
Previous menstrual periods stopGyakran (30–79%)
Small uterusGyakran (30–79%)
Underdeveloped ovaryGyakran (30–79%)
Abnormal morphology of female internal genitaliaNéha (5–29%)
Abnormality of the genitourinary systemNéha (5–29%)
Absent kidneyNéha (5–29%)
Ambiguous external genitaliaNéha (5–29%)
DyspareuniaNéha (5–29%)
InfertilityNéha (5–29%)

Abnormality of the musculoskeletal system

TraitMilyen gyakran fordul elő
Delayed bone maturationNagyon gyakran (80–99%)
Abnormal vertebral morphologyGyakran (30–79%)
Abnormality of the ribsGyakran (30–79%)
Decreased muscle tone in infantGyakran (30–79%)
Generalized decreased muscle toneGyakran (30–79%)
Involuntary muscle stiffness, contraction, or spasmGyakran (30–79%)
Low solidness and mass of the bonesGyakran (30–79%)
OsteopeniaGyakran (30–79%)
OsteoporosisGyakran (30–79%)
Abnormal skeletal developmentNéha (5–29%)
Abnormality of the skeletal systemNéha (5–29%)
EMG: myopathic abnormalitiesNéha (5–29%)
Flexed joint that cannot be straightenedNéha (5–29%)
Hypermobility of all jointsNéha (5–29%)
Low muscle toneNéha (5–29%)
Low muscle tone in trunkNéha (5–29%)
Muscle weaknessNéha (5–29%)
Permanent flexion of the finger or toeNéha (5–29%)
Recurrent fracturesNéha (5–29%)
ScoliosisNéha (5–29%)

Abnormality of the endocrine system

TraitMilyen gyakran fordul elő
Hypogonadotropic hypogonadismMindig
Absence of pubertal developmentNagyon gyakran (80–99%)
Absence of secondary sex characteristicsNagyon gyakran (80–99%)
Anterior hypopituitarismNagyon gyakran (80–99%)
Decreased function of male gonadNagyon gyakran (80–99%)
Decreased serum testosterone levelNagyon gyakran (80–99%)
Delayed pubertyNagyon gyakran (80–99%)
Female hypogonadismNagyon gyakran (80–99%)
Gonadotropin-releasing hormone deficiencyNagyon gyakran (80–99%)
Abnormal hypothalamus physiologyGyakran (30–79%)
Abnormality of the endocrine systemGyakran (30–79%)
Central diabetes insipidusGyakran (30–79%)
Diabetes insipidusGyakran (30–79%)
Early onset of pubertyGyakran (30–79%)
Central hypothyroidismNéha (5–29%)
Decreased response to growth hormone stimulation testNéha (5–29%)
PanhypopituitarismNéha (5–29%)
Underactive thyroidNéha (5–29%)
Small pituitary glandNincs rögzítve

Abnormality of the eye

TraitMilyen gyakran fordul elő
Abnormality of the eyeNagyon gyakran (80–99%)
Abnormally close eyesNagyon gyakran (80–99%)
Cerebral visual impairmentGyakran (30–79%)
Abnormal color visionNéha (5–29%)
Cat eyeNéha (5–29%)
Cross-eyedNéha (5–29%)
Cyclops eyeNéha (5–29%)
Drooping upper eyelidNéha (5–29%)
Involuntary, rapid, rhythmic eye movementsNéha (5–29%)
Visual impairmentNéha (5–29%)
Wide-set eyesNéha (5–29%)

Abnormality of the digestive system

TraitMilyen gyakran fordul elő
Feeding difficultiesNagyon gyakran (80–99%)
Poor suckNagyon gyakran (80–99%)
Acid refluxGyakran (30–79%)
ConstipationGyakran (30–79%)
Poor swallowingGyakran (30–79%)
VomitingGyakran (30–79%)
Abnormal shape of the digestive systemNéha (5–29%)
Absence or narrowing of first part of small bowelNéha (5–29%)
Anteriorly placed anusNéha (5–29%)
Gastrostomy tube feeding in infancyNéha (5–29%)

Growth abnormality

TraitMilyen gyakran fordul elő
Eunuchoid habitusNagyon gyakran (80–99%)
Faltering weightNagyon gyakran (80–99%)
Growth delayNagyon gyakran (80–99%)
Short statureNagyon gyakran (80–99%)
Abnormality of body heightGyakran (30–79%)
Prenatal growth deficiencyGyakran (30–79%)
ObesityNéha (5–29%)

Abnormality of the cardiovascular system

TraitMilyen gyakran fordul elő
Abnormal cardiovascular system morphologyNéha (5–29%)
Abnormal heart rate variabilityNéha (5–29%)
Abnormality of the heartNéha (5–29%)
Narrowing of aortaNéha (5–29%)
Strawberry markNéha (5–29%)
Tetralogy of FallotNéha (5–29%)

Abnormality of limbs

TraitMilyen gyakran fordul elő
Abnormality of limbsNéha (5–29%)
Dropped archesNéha (5–29%)
High-arched footNéha (5–29%)
Hip dislocationNéha (5–29%)

Abnormality of the integument

TraitMilyen gyakran fordul elő
Limited armpit hairMindig
Sparse pubic hairMindig
Sparse body hairNagyon gyakran (80–99%)
IchthyosisNéha (5–29%)

Abnormality of the breast

TraitMilyen gyakran fordul elő
Underdeveloped breastsNagyon gyakran (80–99%)
Wide-spaced nipplesNagyon gyakran (80–99%)
Enlarged male breastGyakran (30–79%)

Abnormality of the respiratory system

TraitMilyen gyakran fordul elő
Abnormal pattern of respirationGyakran (30–79%)
Central apneaGyakran (30–79%)
Chronic lung diseaseGyakran (30–79%)

Abnormality of the ear

TraitMilyen gyakran fordul elő
Sensorineural hearing impairmentGyakran (30–79%)
Congenital sensorineural hearing impairmentNéha (5–29%)

Abnormality of the immune system

TraitMilyen gyakran fordul elő
Aspiration pneumoniaGyakran (30–79%)
AsthmaNéha (5–29%)

Abnormality of prenatal development or birth

TraitMilyen gyakran fordul elő
Premature birthGyakran (30–79%)

Abnormality of the voice

TraitMilyen gyakran fordul elő
Abnormality of the voiceNagyon gyakran (80–99%)

Laboratory abnormality

TraitMilyen gyakran fordul elő
Temperature instabilityGyakran (30–79%)

Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.

Forrás

  • 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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