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

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

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

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

Trait	나타나는 빈도
Extra toe attached near the little toe	항상
More than five fingers or toes on hands or feet	항상
Postaxial polydactyly	항상
Short fingers or toes	자주 (30–79%)
Club feet	가끔 (5–29%)
Duplication of bones of the toes	가끔 (5–29%)
Extra finger	가끔 (5–29%)
Finger syndactyly	가끔 (5–29%)
Webbed fingers or toes	가끔 (5–29%)
Curvature of outermost bone of little finger	드물게 (1–4%)

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

Trait	나타나는 빈도
Feeding difficulties in infancy	자주 (30–79%)
Abnormality of the gastrointestinal tract	가끔 (5–29%)
Enlarged colon lacking nerve cells	가끔 (5–29%)
Hepatic fibrosis	가끔 (5–29%)
Celiac disease	드물게 (1–4%)
Inflammation of the large intestine	드물게 (1–4%)

Trait	나타나는 빈도
Low muscle tone	항상
Abnormal vertebral body morphology	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Involuntary muscle stiffness, contraction, or spasm	가끔 (5–29%)
Muscle degeneration	가끔 (5–29%)
Scoliosis	가끔 (5–29%)

Trait	나타나는 빈도
High blood pressure	자주 (30–79%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
Abnormality of the heart	가끔 (5–29%)
All organs on wrong side of body	가끔 (5–29%)
Disease of the heart muscle	드물게 (1–4%)

Trait	나타나는 빈도
Ears rotated toward back of head	가끔 (5–29%)
Hearing impairment	가끔 (5–29%)
Large ears	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Middle ear infection	가끔 (5–29%)

Trait	나타나는 빈도
Decreased activity of gonads	항상
Abnormality of the endocrine system	가끔 (5–29%)
Abnormality of the hypothalamus-pituitary axis	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Trait	나타나는 빈도
Birth weight > 90th percentile	항상
Obesity	항상
Childhood-onset truncal obesity	매우 자주 (80–99%)
Short stature	자주 (30–79%)

Trait	나타나는 빈도
Abnormal pattern of respiration	매우 자주 (80–99%)
Apnea	매우 자주 (80–99%)
Episodic tachypnea	매우 자주 (80–99%)

Trait	나타나는 빈도
Asthma	가끔 (5–29%)

Trait	나타나는 빈도
Excessive hairiness over body	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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