Özellikler

H4C5 ile ilişkili özellikler

H4 clustered histone 5

Human Phenotype Ontology, H4C5 ile ilişkili 116 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

H4C5

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Low muscle tone	Bazen (%5–29)
Low muscle tone in trunk	Bazen (%5–29)
Lower limb spasticity	Bazen (%5–29)
Prominent swayback	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Spastic diplegia	Bazen (%5–29)
Spastic tetraplegia	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Birthmark	Bazen (%5–29)
Curly hair	Bazen (%5–29)
Excessive wrinkled skin	Bazen (%5–29)
Hyperelastic skin	Bazen (%5–29)
Mole	Bazen (%5–29)
Prematurely aged appearance	Bazen (%5–29)
Reduced fat tissue below the skin	Bazen (%5–29)
Spinal dimple	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Alternating exotropia	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Farsightedness	Bazen (%5–29)
Mild myopia	Bazen (%5–29)
Moderate myopia	Bazen (%5–29)
Monocular strabismus	Bazen (%5–29)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Dropped arches	Bazen (%5–29)
Increased muscle tone of arm or leg	Bazen (%5–29)
Long fingers	Bazen (%5–29)
Pes valgus	Bazen (%5–29)
Prominent fingertip pads	Bazen (%5–29)
Tapered finger	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Hearing impairment	Bazen (%5–29)
Low-set ears	Bazen (%5–29)
Recurrent middle ear infection	Bazen (%5–29)
Thickened helices	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Acid reflux	Bazen (%5–29)
Chronic constipation	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Bazen (%5–29)
Growth delay	Bazen (%5–29)
Short stature	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Large testis	Bazen (%5–29)
Small kidney on one side	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent infections	Bazen (%5–29)
Recurrent respiratory infections	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Strawberry mark	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Episodic fever	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: H4C5 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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