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.

Abnormality of the nervous system

Trait	Hvor ofte det ses
Delayed speech and language development	Altid
Global developmental delay	Altid
Increased appetite	Altid
Intellectual disability	Altid
Molar tooth sign on MRI	Altid
Motor delay	Altid
Ataxia	Meget ofte (80–99 %)
Cerebellar vermis hypoplasia	Meget ofte (80–99 %)
Neurodevelopmental delay	Meget ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Autism	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Depression	Ofte (30–79 %)
Short attention span	Ofte (30–79 %)
Specific learning disability	Ofte (30–79 %)
Abnormal speech pattern	Nogle gange (5–29 %)
Abnormality of neuronal migration	Nogle gange (5–29 %)
Anxiety	Nogle gange (5–29 %)
Aplasia/Hypoplasia of the corpus callosum	Nogle gange (5–29 %)
Breathy speech	Nogle gange (5–29 %)
Can't control feelings	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)
More grooves in brain	Nogle gange (5–29 %)
Too much cerebrospinal fluid in the brain	Nogle gange (5–29 %)
Tremor	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormally small head	Altid
Almond shaped eyes	Altid
Big calvaria	Altid
Depressed nasal bridge	Altid
Abnormality of the oral cavity	Ofte (30–79 %)
Abnormality of the sense of smell	Ofte (30–79 %)
Decreased width of the skull	Ofte (30–79 %)
Dental crowding	Ofte (30–79 %)
Failure of development of between one and six teeth	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Cleft of the mouth	Nogle gange (5–29 %)
Decreased size of tooth	Nogle gange (5–29 %)
Downward slanting of the opening between the eyelids	Nogle gange (5–29 %)
Encephalocele	Nogle gange (5–29 %)
Highly arched eyebrow	Nogle gange (5–29 %)
Long philtrum	Nogle gange (5–29 %)
Medial flaring of the eyebrow	Nogle gange (5–29 %)
Nasal inflammation	Nogle gange (5–29 %)
Nasal tip, upturned	Nogle gange (5–29 %)
Prominent nasal bridge	Nogle gange (5–29 %)
Receding chin	Nogle gange (5–29 %)
Short neck	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Irregularly shaped sperm tail	Altid
Male infertility	Altid
Short sperm flagella	Altid
Abnormality of the genitourinary system	Ofte (30–79 %)
Chronic kidney disease	Ofte (30–79 %)
Immotile sperm	Ofte (30–79 %)
Low sperm count	Ofte (30–79 %)
Reduced progressive sperm motility	Ofte (30–79 %)
Underdeveloped ovary	Ofte (30–79 %)
Underdeveloped penis	Ofte (30–79 %)
Absent/small vagina	Nogle gange (5–29 %)
Decreased testicular size	Nogle gange (5–29 %)
Horseshoe kidney	Nogle gange (5–29 %)
Hydrometrocolpos	Nogle gange (5–29 %)
Hydronephrosis	Nogle gange (5–29 %)
Infertility	Nogle gange (5–29 %)
Lack of bladder control due to nervous system injury	Nogle gange (5–29 %)
Menstrual irregularity	Nogle gange (5–29 %)
Multiple kidney cysts	Nogle gange (5–29 %)
Nephrotic syndrome	Nogle gange (5–29 %)
Polycystic ovaries	Nogle gange (5–29 %)
Undescended testes	Nogle gange (5–29 %)
Vesicoureteral reflux	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Breakdown of light-sensitive cells in back of eye	Altid
Macular hypopigmentation	Altid
Rod-cone dystrophy	Altid
Visual impairment	Altid
Cone/cone-rod dystrophy	Meget ofte (80–99 %)
Oculomotor apraxia	Meget ofte (80–99 %)
Abnormal color vision	Ofte (30–79 %)
Abnormal electroretinogram	Ofte (30–79 %)
Blindness	Ofte (30–79 %)
Decreased clarity of vision	Ofte (30–79 %)
Difficulties with night vision	Ofte (30–79 %)
Extreme sensitivity of the eyes to light	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Optic nerve hypoplasia	Ofte (30–79 %)
Astigmatism	Nogle gange (5–29 %)
Cat eye	Nogle gange (5–29 %)
Clouding of the lens of the eye	Nogle gange (5–29 %)
Cross-eyed	Nogle gange (5–29 %)
Drooping upper eyelid	Nogle gange (5–29 %)
Wide-set eyes	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Extra toe attached near the little toe	Altid
More than five fingers or toes on hands or feet	Altid
Postaxial polydactyly	Altid
Short fingers or toes	Ofte (30–79 %)
Club feet	Nogle gange (5–29 %)
Duplication of bones of the toes	Nogle gange (5–29 %)
Extra finger	Nogle gange (5–29 %)
Finger syndactyly	Nogle gange (5–29 %)
Webbed fingers or toes	Nogle gange (5–29 %)
Curvature of outermost bone of little finger	Sjældent (1–4%)

Laboratory abnormality

Trait	Hvor ofte det ses
Decreased circulating high-density lipoprotein cholesterol	Ofte (30–79 %)
High liver enzymes	Ofte (30–79 %)
Impaired fasting glucose	Ofte (30–79 %)
Increased plasma triglycerides	Ofte (30–79 %)
Body fails to respond to insulin	Nogle gange (5–29 %)
Fatty infiltration of liver	Nogle gange (5–29 %)
Noninsulin-dependent diabetes	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties in infancy	Ofte (30–79 %)
Abnormality of the gastrointestinal tract	Nogle gange (5–29 %)
Enlarged colon lacking nerve cells	Nogle gange (5–29 %)
Hepatic fibrosis	Nogle gange (5–29 %)
Celiac disease	Sjældent (1–4%)
Inflammation of the large intestine	Sjældent (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Low muscle tone	Altid
Abnormal vertebral body morphology	Nogle gange (5–29 %)
Double-Jointed	Nogle gange (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Nogle gange (5–29 %)
Muscle degeneration	Nogle gange (5–29 %)
Scoliosis	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
High blood pressure	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Nogle gange (5–29 %)
Abnormality of the heart	Nogle gange (5–29 %)
All organs on wrong side of body	Nogle gange (5–29 %)
Disease of the heart muscle	Sjældent (1–4%)

Abnormality of the ear

Trait	Hvor ofte det ses
Ears rotated toward back of head	Nogle gange (5–29 %)
Hearing impairment	Nogle gange (5–29 %)
Large ears	Nogle gange (5–29 %)
Low-set ears	Nogle gange (5–29 %)
Middle ear infection	Nogle gange (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Decreased activity of gonads	Altid
Abnormality of the endocrine system	Nogle gange (5–29 %)
Abnormality of the hypothalamus-pituitary axis	Nogle gange (5–29 %)
Underactive thyroid	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Birth weight > 90th percentile	Altid
Obesity	Altid
Childhood-onset truncal obesity	Meget ofte (80–99 %)
Short stature	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormal pattern of respiration	Meget ofte (80–99 %)
Apnea	Meget ofte (80–99 %)
Episodic tachypnea	Meget ofte (80–99 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Asthma	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Excessive hairiness over body	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test