Požymiai

Su H4C5 susiję požymiai

H4 clustered histone 5

Žmogaus fenotipo ontologija sieja 116 požymių su H4C5, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

H4C5

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Kartais (5–29%)
Big lower jaw	Kartais (5–29%)
Broad columella	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Chewing difficulties	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Deep philtrum	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Full lips	Kartais (5–29%)
Fullness around the eyes	Kartais (5–29%)
High frontal hairline	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Horizontal eyebrow	Kartais (5–29%)
Limited hair on end of eyebrow	Kartais (5–29%)
Long eyelashes	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Moon face	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Outward turned lips	Kartais (5–29%)
Prominent area between the eyebrows	Kartais (5–29%)
Prominent nose	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short neck	Kartais (5–29%)
Short opening between the eyelids	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Smooth philtrum	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thick nasal alae	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Tongue tied	Kartais (5–29%)
Triangular face	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Widely spaced teeth	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
Agitation	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Autism	Kartais (5–29%)
Brisk reflexes	Kartais (5–29%)
Cerebral palsy	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Dystonia	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Seizure affecting one half of brain	Kartais (5–29%)
Self-mutilation	Kartais (5–29%)
Severe global developmental delay	Kartais (5–29%)
Stereotypical hand wringing	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Toe walking	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Low muscle tone in trunk	Kartais (5–29%)
Lower limb spasticity	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spastic diplegia	Kartais (5–29%)
Spastic tetraplegia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Birthmark	Kartais (5–29%)
Curly hair	Kartais (5–29%)
Excessive wrinkled skin	Kartais (5–29%)
Hyperelastic skin	Kartais (5–29%)
Mole	Kartais (5–29%)
Prematurely aged appearance	Kartais (5–29%)
Reduced fat tissue below the skin	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Alternating exotropia	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Mild myopia	Kartais (5–29%)
Moderate myopia	Kartais (5–29%)
Monocular strabismus	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Kartais (5–29%)
Increased muscle tone of arm or leg	Kartais (5–29%)
Long fingers	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Prominent fingertip pads	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Recurrent middle ear infection	Kartais (5–29%)
Thickened helices	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Kartais (5–29%)
Chronic constipation	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Kartais (5–29%)
Growth delay	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Large testis	Kartais (5–29%)
Small kidney on one side	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Strawberry mark	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Episodic fever	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su H4C5 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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