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

Abnormality of head or neck

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

Abnormality of the genitourinary system

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

Abnormality of the eye

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

Abnormality of limbs

Trait	Frequenza di osservazione
Extra toe attached near the little toe	Sempre
More than five fingers or toes on hands or feet	Sempre
Postaxial polydactyly	Sempre
Short fingers or toes	Spesso (30–79%)
Club feet	A volte (5–29%)
Duplication of bones of the toes	A volte (5–29%)
Extra finger	A volte (5–29%)
Finger syndactyly	A volte (5–29%)
Webbed fingers or toes	A volte (5–29%)
Curvature of outermost bone of little finger	Raramente (1–4%)

Laboratory abnormality

Trait	Frequenza di osservazione
Decreased circulating high-density lipoprotein cholesterol	Spesso (30–79%)
High liver enzymes	Spesso (30–79%)
Impaired fasting glucose	Spesso (30–79%)
Increased plasma triglycerides	Spesso (30–79%)
Body fails to respond to insulin	A volte (5–29%)
Fatty infiltration of liver	A volte (5–29%)
Noninsulin-dependent diabetes	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Feeding difficulties in infancy	Spesso (30–79%)
Abnormality of the gastrointestinal tract	A volte (5–29%)
Enlarged colon lacking nerve cells	A volte (5–29%)
Hepatic fibrosis	A volte (5–29%)
Celiac disease	Raramente (1–4%)
Inflammation of the large intestine	Raramente (1–4%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Low muscle tone	Sempre
Abnormal vertebral body morphology	A volte (5–29%)
Double-Jointed	A volte (5–29%)
Involuntary muscle stiffness, contraction, or spasm	A volte (5–29%)
Muscle degeneration	A volte (5–29%)
Scoliosis	A volte (5–29%)

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
High blood pressure	Spesso (30–79%)
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormality of the heart	A volte (5–29%)
All organs on wrong side of body	A volte (5–29%)
Disease of the heart muscle	Raramente (1–4%)

Abnormality of the ear

Trait	Frequenza di osservazione
Ears rotated toward back of head	A volte (5–29%)
Hearing impairment	A volte (5–29%)
Large ears	A volte (5–29%)
Low-set ears	A volte (5–29%)
Middle ear infection	A volte (5–29%)

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Decreased activity of gonads	Sempre
Abnormality of the endocrine system	A volte (5–29%)
Abnormality of the hypothalamus-pituitary axis	A volte (5–29%)
Underactive thyroid	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Birth weight > 90th percentile	Sempre
Obesity	Sempre
Childhood-onset truncal obesity	Molto spesso (80–99%)
Short stature	Spesso (30–79%)

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Abnormal pattern of respiration	Molto spesso (80–99%)
Apnea	Molto spesso (80–99%)
Episodic tachypnea	Molto spesso (80–99%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Asthma	A volte (5–29%)

Abnormality of the integument

Trait	Frequenza di osservazione
Excessive hairiness over body	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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