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	Ne sıklıkla görüldüğü
Delayed speech and language development	Her zaman
Global developmental delay	Her zaman
Increased appetite	Her zaman
Intellectual disability	Her zaman
Molar tooth sign on MRI	Her zaman
Motor delay	Her zaman
Ataxia	Çok sık (%80–99)
Cerebellar vermis hypoplasia	Çok sık (%80–99)
Neurodevelopmental delay	Çok sık (%80–99)
Abnormal gait	Sık (%30–79)
Autism	Sık (%30–79)
Behavioral abnormality	Sık (%30–79)
Cognitive impairment	Sık (%30–79)
Depression	Sık (%30–79)
Short attention span	Sık (%30–79)
Specific learning disability	Sık (%30–79)
Abnormal speech pattern	Bazen (%5–29)
Abnormality of neuronal migration	Bazen (%5–29)
Anxiety	Bazen (%5–29)
Aplasia/Hypoplasia of the corpus callosum	Bazen (%5–29)
Breathy speech	Bazen (%5–29)
Can't control feelings	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
More grooves in brain	Bazen (%5–29)
Too much cerebrospinal fluid in the brain	Bazen (%5–29)
Tremor	Bazen (%5–29)

Abnormality of head or neck

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

Abnormality of the genitourinary system

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

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Breakdown of light-sensitive cells in back of eye	Her zaman
Macular hypopigmentation	Her zaman
Rod-cone dystrophy	Her zaman
Visual impairment	Her zaman
Cone/cone-rod dystrophy	Çok sık (%80–99)
Oculomotor apraxia	Çok sık (%80–99)
Abnormal color vision	Sık (%30–79)
Abnormal electroretinogram	Sık (%30–79)
Blindness	Sık (%30–79)
Decreased clarity of vision	Sık (%30–79)
Difficulties with night vision	Sık (%30–79)
Extreme sensitivity of the eyes to light	Sık (%30–79)
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Optic nerve hypoplasia	Sık (%30–79)
Astigmatism	Bazen (%5–29)
Cat eye	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Drooping upper eyelid	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Extra toe attached near the little toe	Her zaman
More than five fingers or toes on hands or feet	Her zaman
Postaxial polydactyly	Her zaman
Short fingers or toes	Sık (%30–79)
Club feet	Bazen (%5–29)
Duplication of bones of the toes	Bazen (%5–29)
Extra finger	Bazen (%5–29)
Finger syndactyly	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)
Curvature of outermost bone of little finger	Seyrek (%1–4)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Decreased circulating high-density lipoprotein cholesterol	Sık (%30–79)
High liver enzymes	Sık (%30–79)
Impaired fasting glucose	Sık (%30–79)
Increased plasma triglycerides	Sık (%30–79)
Body fails to respond to insulin	Bazen (%5–29)
Fatty infiltration of liver	Bazen (%5–29)
Noninsulin-dependent diabetes	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties in infancy	Sık (%30–79)
Abnormality of the gastrointestinal tract	Bazen (%5–29)
Enlarged colon lacking nerve cells	Bazen (%5–29)
Hepatic fibrosis	Bazen (%5–29)
Celiac disease	Seyrek (%1–4)
Inflammation of the large intestine	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Low muscle tone	Her zaman
Abnormal vertebral body morphology	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Muscle degeneration	Bazen (%5–29)
Scoliosis	Bazen (%5–29)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
High blood pressure	Sık (%30–79)
Abnormal cardiovascular system morphology	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
All organs on wrong side of body	Bazen (%5–29)
Disease of the heart muscle	Seyrek (%1–4)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Ears rotated toward back of head	Bazen (%5–29)
Hearing impairment	Bazen (%5–29)
Large ears	Bazen (%5–29)
Low-set ears	Bazen (%5–29)
Middle ear infection	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Decreased activity of gonads	Her zaman
Abnormality of the endocrine system	Bazen (%5–29)
Abnormality of the hypothalamus-pituitary axis	Bazen (%5–29)
Underactive thyroid	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Birth weight > 90th percentile	Her zaman
Obesity	Her zaman
Childhood-onset truncal obesity	Çok sık (%80–99)
Short stature	Sık (%30–79)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormal pattern of respiration	Çok sık (%80–99)
Apnea	Çok sık (%80–99)
Episodic tachypnea	Çok sık (%80–99)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Asthma	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Excessive hairiness over body	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al