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

Abnormality of head or neck

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

Abnormality of the genitourinary system

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

Abnormality of the eye

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

Abnormality of limbs

Trait	How often it is seen
Extra toe attached near the little toe	Always
More than five fingers or toes on hands or feet	Always
Postaxial polydactyly	Always
Short fingers or toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Curvature of outermost bone of little finger	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
High liver enzymes	Often (30–79%)
Impaired fasting glucose	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Body fails to respond to insulin	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Celiac disease	Rarely (1–4%)
Inflammation of the large intestine	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Abnormal vertebral body morphology	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Disease of the heart muscle	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Middle ear infection	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Abnormality of the endocrine system	Sometimes (5–29%)
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	Always
Obesity	Always
Childhood-onset truncal obesity	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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