Kjennetegn

Kjennetegn knyttet til IFT74

intraflagellar transport 74

Human Phenotype Ontology knytter 144 kjennetegn til IFT74, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Delayed speech and language development	Alltid
Global developmental delay	Alltid
Increased appetite	Alltid
Intellectual disability	Alltid
Molar tooth sign on MRI	Alltid
Motor delay	Alltid
Ataxia	Svært ofte (80–99 %)
Cerebellar vermis hypoplasia	Svært ofte (80–99 %)
Neurodevelopmental delay	Svært 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	Noen ganger (5–29 %)
Abnormality of neuronal migration	Noen ganger (5–29 %)
Anxiety	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the corpus callosum	Noen ganger (5–29 %)
Breathy speech	Noen ganger (5–29 %)
Can't control feelings	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
More grooves in brain	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Abnormally small head	Alltid
Almond shaped eyes	Alltid
Big calvaria	Alltid
Depressed nasal bridge	Alltid
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	Noen ganger (5–29 %)
Decreased size of tooth	Noen ganger (5–29 %)
Downward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Encephalocele	Noen ganger (5–29 %)
Highly arched eyebrow	Noen ganger (5–29 %)
Long philtrum	Noen ganger (5–29 %)
Medial flaring of the eyebrow	Noen ganger (5–29 %)
Nasal inflammation	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Prominent nasal bridge	Noen ganger (5–29 %)
Receding chin	Noen ganger (5–29 %)
Short neck	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Irregularly shaped sperm tail	Alltid
Male infertility	Alltid
Short sperm flagella	Alltid
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	Noen ganger (5–29 %)
Decreased testicular size	Noen ganger (5–29 %)
Horseshoe kidney	Noen ganger (5–29 %)
Hydrometrocolpos	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Infertility	Noen ganger (5–29 %)
Lack of bladder control due to nervous system injury	Noen ganger (5–29 %)
Menstrual irregularity	Noen ganger (5–29 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Nephrotic syndrome	Noen ganger (5–29 %)
Polycystic ovaries	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Breakdown of light-sensitive cells in back of eye	Alltid
Macular hypopigmentation	Alltid
Rod-cone dystrophy	Alltid
Visual impairment	Alltid
Cone/cone-rod dystrophy	Svært ofte (80–99 %)
Oculomotor apraxia	Svært 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	Noen ganger (5–29 %)
Cat eye	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Extra toe attached near the little toe	Alltid
More than five fingers or toes on hands or feet	Alltid
Postaxial polydactyly	Alltid
Short fingers or toes	Ofte (30–79 %)
Club feet	Noen ganger (5–29 %)
Duplication of bones of the toes	Noen ganger (5–29 %)
Extra finger	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)
Curvature of outermost bone of little finger	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
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	Noen ganger (5–29 %)
Fatty infiltration of liver	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties in infancy	Ofte (30–79 %)
Abnormality of the gastrointestinal tract	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Hepatic fibrosis	Noen ganger (5–29 %)
Celiac disease	Sjelden (1–4%)
Inflammation of the large intestine	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Low muscle tone	Alltid
Abnormal vertebral body morphology	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Noen ganger (5–29 %)
Muscle degeneration	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
High blood pressure	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
All organs on wrong side of body	Noen ganger (5–29 %)
Disease of the heart muscle	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)
Large ears	Noen ganger (5–29 %)
Low-set ears	Noen ganger (5–29 %)
Middle ear infection	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased activity of gonads	Alltid
Abnormality of the endocrine system	Noen ganger (5–29 %)
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Birth weight > 90th percentile	Alltid
Obesity	Alltid
Childhood-onset truncal obesity	Svært ofte (80–99 %)
Short stature	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormal pattern of respiration	Svært ofte (80–99 %)
Apnea	Svært ofte (80–99 %)
Episodic tachypnea	Svært ofte (80–99 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Asthma	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hairiness over body	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til IFT74 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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