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Traits
Traits linked to IFT74
intraflagellar transport 74
The Human Phenotype Ontology links 144 traits to IFT74, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Delayed speech and language development | Altijd |
| Global developmental delay | Altijd |
| Increased appetite | Altijd |
| Intellectual disability | Altijd |
| Molar tooth sign on MRI | Altijd |
| Motor delay | Altijd |
| Ataxia | Heel vaak (80–99%) |
| Cerebellar vermis hypoplasia | Heel vaak (80–99%) |
| Neurodevelopmental delay | Heel vaak (80–99%) |
| Abnormal gait | Vaak (30–79%) |
| Autism | Vaak (30–79%) |
| Behavioral abnormality | Vaak (30–79%) |
| Cognitive impairment | Vaak (30–79%) |
| Depression | Vaak (30–79%) |
| Short attention span | Vaak (30–79%) |
| Specific learning disability | Vaak (30–79%) |
| Abnormal speech pattern | Soms (5–29%) |
| Abnormality of neuronal migration | Soms (5–29%) |
| Anxiety | Soms (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Soms (5–29%) |
| Breathy speech | Soms (5–29%) |
| Can't control feelings | Soms (5–29%) |
| Epilepsy | Soms (5–29%) |
| More grooves in brain | Soms (5–29%) |
| Too much cerebrospinal fluid in the brain | Soms (5–29%) |
| Tremor | Soms (5–29%) |
Abnormality of head or neck
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormally small head | Altijd |
| Almond shaped eyes | Altijd |
| Big calvaria | Altijd |
| Depressed nasal bridge | Altijd |
| Abnormality of the oral cavity | Vaak (30–79%) |
| Abnormality of the sense of smell | Vaak (30–79%) |
| Decreased width of the skull | Vaak (30–79%) |
| Dental crowding | Vaak (30–79%) |
| Failure of development of between one and six teeth | Vaak (30–79%) |
| High palate | Vaak (30–79%) |
| Long face | Vaak (30–79%) |
| Cleft of the mouth | Soms (5–29%) |
| Decreased size of tooth | Soms (5–29%) |
| Downward slanting of the opening between the eyelids | Soms (5–29%) |
| Encephalocele | Soms (5–29%) |
| Highly arched eyebrow | Soms (5–29%) |
| Long philtrum | Soms (5–29%) |
| Medial flaring of the eyebrow | Soms (5–29%) |
| Nasal inflammation | Soms (5–29%) |
| Nasal tip, upturned | Soms (5–29%) |
| Prominent nasal bridge | Soms (5–29%) |
| Receding chin | Soms (5–29%) |
| Short neck | Soms (5–29%) |
Abnormality of the genitourinary system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Irregularly shaped sperm tail | Altijd |
| Male infertility | Altijd |
| Short sperm flagella | Altijd |
| Abnormality of the genitourinary system | Vaak (30–79%) |
| Chronic kidney disease | Vaak (30–79%) |
| Immotile sperm | Vaak (30–79%) |
| Low sperm count | Vaak (30–79%) |
| Reduced progressive sperm motility | Vaak (30–79%) |
| Underdeveloped ovary | Vaak (30–79%) |
| Underdeveloped penis | Vaak (30–79%) |
| Absent/small vagina | Soms (5–29%) |
| Decreased testicular size | Soms (5–29%) |
| Horseshoe kidney | Soms (5–29%) |
| Hydrometrocolpos | Soms (5–29%) |
| Hydronephrosis | Soms (5–29%) |
| Infertility | Soms (5–29%) |
| Lack of bladder control due to nervous system injury | Soms (5–29%) |
| Menstrual irregularity | Soms (5–29%) |
| Multiple kidney cysts | Soms (5–29%) |
| Nephrotic syndrome | Soms (5–29%) |
| Polycystic ovaries | Soms (5–29%) |
| Undescended testes | Soms (5–29%) |
| Vesicoureteral reflux | Soms (5–29%) |
Abnormality of the eye
| Trait | Hoe vaak het voorkomt |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Altijd |
| Macular hypopigmentation | Altijd |
| Rod-cone dystrophy | Altijd |
| Visual impairment | Altijd |
| Cone/cone-rod dystrophy | Heel vaak (80–99%) |
| Oculomotor apraxia | Heel vaak (80–99%) |
| Abnormal color vision | Vaak (30–79%) |
| Abnormal electroretinogram | Vaak (30–79%) |
| Blindness | Vaak (30–79%) |
| Decreased clarity of vision | Vaak (30–79%) |
| Difficulties with night vision | Vaak (30–79%) |
| Extreme sensitivity of the eyes to light | Vaak (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Vaak (30–79%) |
| Optic nerve hypoplasia | Vaak (30–79%) |
| Astigmatism | Soms (5–29%) |
| Cat eye | Soms (5–29%) |
| Clouding of the lens of the eye | Soms (5–29%) |
| Cross-eyed | Soms (5–29%) |
| Drooping upper eyelid | Soms (5–29%) |
| Wide-set eyes | Soms (5–29%) |
Abnormality of limbs
| Trait | Hoe vaak het voorkomt |
|---|---|
| Extra toe attached near the little toe | Altijd |
| More than five fingers or toes on hands or feet | Altijd |
| Postaxial polydactyly | Altijd |
| Short fingers or toes | Vaak (30–79%) |
| Club feet | Soms (5–29%) |
| Duplication of bones of the toes | Soms (5–29%) |
| Extra finger | Soms (5–29%) |
| Finger syndactyly | Soms (5–29%) |
| Webbed fingers or toes | Soms (5–29%) |
| Curvature of outermost bone of little finger | Zelden (1–4%) |
Laboratory abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Vaak (30–79%) |
| High liver enzymes | Vaak (30–79%) |
| Impaired fasting glucose | Vaak (30–79%) |
| Increased plasma triglycerides | Vaak (30–79%) |
| Body fails to respond to insulin | Soms (5–29%) |
| Fatty infiltration of liver | Soms (5–29%) |
| Noninsulin-dependent diabetes | Soms (5–29%) |
Abnormality of the digestive system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Feeding difficulties in infancy | Vaak (30–79%) |
| Abnormality of the gastrointestinal tract | Soms (5–29%) |
| Enlarged colon lacking nerve cells | Soms (5–29%) |
| Hepatic fibrosis | Soms (5–29%) |
| Celiac disease | Zelden (1–4%) |
| Inflammation of the large intestine | Zelden (1–4%) |
Abnormality of the musculoskeletal system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Low muscle tone | Altijd |
| Abnormal vertebral body morphology | Soms (5–29%) |
| Double-Jointed | Soms (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Soms (5–29%) |
| Muscle degeneration | Soms (5–29%) |
| Scoliosis | Soms (5–29%) |
Abnormality of the cardiovascular system
| Trait | Hoe vaak het voorkomt |
|---|---|
| High blood pressure | Vaak (30–79%) |
| Abnormal cardiovascular system morphology | Soms (5–29%) |
| Abnormality of the heart | Soms (5–29%) |
| All organs on wrong side of body | Soms (5–29%) |
| Disease of the heart muscle | Zelden (1–4%) |
Abnormality of the ear
| Trait | Hoe vaak het voorkomt |
|---|---|
| Ears rotated toward back of head | Soms (5–29%) |
| Hearing impairment | Soms (5–29%) |
| Large ears | Soms (5–29%) |
| Low-set ears | Soms (5–29%) |
| Middle ear infection | Soms (5–29%) |
Abnormality of the endocrine system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Decreased activity of gonads | Altijd |
| Abnormality of the endocrine system | Soms (5–29%) |
| Abnormality of the hypothalamus-pituitary axis | Soms (5–29%) |
| Underactive thyroid | Soms (5–29%) |
Growth abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Birth weight > 90th percentile | Altijd |
| Obesity | Altijd |
| Childhood-onset truncal obesity | Heel vaak (80–99%) |
| Short stature | Vaak (30–79%) |
Abnormality of the respiratory system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormal pattern of respiration | Heel vaak (80–99%) |
| Apnea | Heel vaak (80–99%) |
| Episodic tachypnea | Heel vaak (80–99%) |
Abnormality of the immune system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Asthma | Soms (5–29%) |
Abnormality of the integument
| Trait | Hoe vaak het voorkomt |
|---|---|
| Excessive hairiness over body | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to IFT74 and how often each is seen. Find out more at hpo.jax.org.
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