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

Trait	Kui sageli seda täheldatakse
Abnormal central motor function	Sageli (30–79%)
Abnormal corpus callosum morphology	Sageli (30–79%)
Abnormal morphology of the olfactory bulb	Sageli (30–79%)
Abnormal shape of brainstem	Sageli (30–79%)
Abnormal shape of midbrain	Sageli (30–79%)
Abnormality of the autonomic nervous system	Sageli (30–79%)
Absent speech development	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Aplasia of the falx cerebri	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Behavioral abnormality	Sageli (30–79%)
Communication delay	Sageli (30–79%)
Depression	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Impulsivity	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Irritability	Sageli (30–79%)
Lack of feeling, emotion, interest	Sageli (30–79%)
Lethargy	Sageli (30–79%)
Limb dystonia	Sageli (30–79%)
Neural tube defect	Sageli (30–79%)
Oromotor apraxia	Sageli (30–79%)
Poor speech	Sageli (30–79%)
Short attention span	Sageli (30–79%)
Sleep-wake cycle disturbance	Sageli (30–79%)
Specific learning disability	Sageli (30–79%)
Abnormal gait	Mõnikord (5–29%)
Abnormal septum pellucidum morphology	Mõnikord (5–29%)
Agenesis of corpus callosum	Mõnikord (5–29%)
Ataxia	Mõnikord (5–29%)
Difficulty articulating speech	Mõnikord (5–29%)
Enlarged brain	Mõnikord (5–29%)
Hand mirror movements	Mõnikord (5–29%)
Holoprosencephaly	Mõnikord (5–29%)
Hypoplasia of the pons	Mõnikord (5–29%)
Leg paralysis	Mõnikord (5–29%)
Perisylvian polymicrogyria	Mõnikord (5–29%)
Rhombencephalosynapsis	Mõnikord (5–29%)
Too much cerebrospinal fluid in the brain	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Blockage of the rear opening of the nasal cavity	Väga sageli (80–99%)
Hyposmia	Väga sageli (80–99%)
Lost smell	Väga sageli (80–99%)
Midnasal stenosis	Väga sageli (80–99%)
Only one upper front tooth	Väga sageli (80–99%)
Abnormally small head	Sageli (30–79%)
Bifid uvula	Sageli (30–79%)
Central cleft upper lip	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Flat nose	Sageli (30–79%)
High palate	Sageli (30–79%)
Narrow nasal bridge	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Tented mouth	Sageli (30–79%)
Abnormal dentition	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Cleft lip	Mõnikord (5–29%)
Cleft of the mouth	Mõnikord (5–29%)
Decreased number of teeth	Mõnikord (5–29%)
Depressed nasal bridge	Mõnikord (5–29%)
Frontoethmoidal encephalocele	Mõnikord (5–29%)
Mono nostril	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Proboscis	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Decreased testicular size	Alati
Primary amenorrhea	Alati
Short penis	Alati
Abnormal erection	Väga sageli (80–99%)
Absent sperm in semen	Väga sageli (80–99%)
Decreased fertility	Väga sageli (80–99%)
Difficulty getting a full erection	Väga sageli (80–99%)
Increased female sex drive	Väga sageli (80–99%)
Non-obstructive azoospermia	Väga sageli (80–99%)
Underdeveloped penis	Väga sageli (80–99%)
Undescended testes	Väga sageli (80–99%)
Previous menstrual periods stop	Sageli (30–79%)
Small uterus	Sageli (30–79%)
Underdeveloped ovary	Sageli (30–79%)
Abnormal morphology of female internal genitalia	Mõnikord (5–29%)
Abnormality of the genitourinary system	Mõnikord (5–29%)
Absent kidney	Mõnikord (5–29%)
Ambiguous external genitalia	Mõnikord (5–29%)
Dyspareunia	Mõnikord (5–29%)
Infertility	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Delayed bone maturation	Väga sageli (80–99%)
Abnormal vertebral morphology	Sageli (30–79%)
Abnormality of the ribs	Sageli (30–79%)
Decreased muscle tone in infant	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Low solidness and mass of the bones	Sageli (30–79%)
Osteopenia	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Abnormal skeletal development	Mõnikord (5–29%)
Abnormality of the skeletal system	Mõnikord (5–29%)
EMG: myopathic abnormalities	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hypermobility of all joints	Mõnikord (5–29%)
Low muscle tone	Mõnikord (5–29%)
Low muscle tone in trunk	Mõnikord (5–29%)
Muscle weakness	Mõnikord (5–29%)
Permanent flexion of the finger or toe	Mõnikord (5–29%)
Recurrent fractures	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Hypogonadotropic hypogonadism	Alati
Absence of pubertal development	Väga sageli (80–99%)
Absence of secondary sex characteristics	Väga sageli (80–99%)
Anterior hypopituitarism	Väga sageli (80–99%)
Decreased function of male gonad	Väga sageli (80–99%)
Decreased serum testosterone level	Väga sageli (80–99%)
Delayed puberty	Väga sageli (80–99%)
Female hypogonadism	Väga sageli (80–99%)
Gonadotropin-releasing hormone deficiency	Väga sageli (80–99%)
Abnormal hypothalamus physiology	Sageli (30–79%)
Abnormality of the endocrine system	Sageli (30–79%)
Central diabetes insipidus	Sageli (30–79%)
Diabetes insipidus	Sageli (30–79%)
Early onset of puberty	Sageli (30–79%)
Central hypothyroidism	Mõnikord (5–29%)
Decreased response to growth hormone stimulation test	Mõnikord (5–29%)
Panhypopituitarism	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)
Small pituitary gland	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Abnormality of the eye	Väga sageli (80–99%)
Abnormally close eyes	Väga sageli (80–99%)
Cerebral visual impairment	Sageli (30–79%)
Abnormal color vision	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Cyclops eye	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Feeding difficulties	Väga sageli (80–99%)
Poor suck	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Abnormal shape of the digestive system	Mõnikord (5–29%)
Absence or narrowing of first part of small bowel	Mõnikord (5–29%)
Anteriorly placed anus	Mõnikord (5–29%)
Gastrostomy tube feeding in infancy	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Eunuchoid habitus	Väga sageli (80–99%)
Faltering weight	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Abnormality of body height	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Obesity	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormal heart rate variability	Mõnikord (5–29%)
Abnormality of the heart	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Strawberry mark	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormality of limbs	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Limited armpit hair	Alati
Sparse pubic hair	Alati
Sparse body hair	Väga sageli (80–99%)
Ichthyosis	Mõnikord (5–29%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Underdeveloped breasts	Väga sageli (80–99%)
Wide-spaced nipples	Väga sageli (80–99%)
Enlarged male breast	Sageli (30–79%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Sageli (30–79%)
Central apnea	Sageli (30–79%)
Chronic lung disease	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Sageli (30–79%)
Congenital sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Aspiration pneumonia	Sageli (30–79%)
Asthma	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Abnormality of the voice	Väga sageli (80–99%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Temperature instability	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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