특성

H4C5 연관 특성

H4 clustered histone 5

인간 표현형 온톨로지가 H4C5에 연결하는 특성은 116개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Decreased muscle tone in infant	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Involuntary muscle stiffness, contraction, or spasm	가끔 (5–29%)
Low muscle tone	가끔 (5–29%)
Low muscle tone in trunk	가끔 (5–29%)
Lower limb spasticity	가끔 (5–29%)
Prominent swayback	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Spastic diplegia	가끔 (5–29%)
Spastic tetraplegia	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Birthmark	가끔 (5–29%)
Curly hair	가끔 (5–29%)
Excessive wrinkled skin	가끔 (5–29%)
Hyperelastic skin	가끔 (5–29%)
Mole	가끔 (5–29%)
Prematurely aged appearance	가끔 (5–29%)
Reduced fat tissue below the skin	가끔 (5–29%)
Spinal dimple	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Alternating exotropia	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Deeply set eye	가끔 (5–29%)
Farsightedness	가끔 (5–29%)
Mild myopia	가끔 (5–29%)
Moderate myopia	가끔 (5–29%)
Monocular strabismus	가끔 (5–29%)

Abnormality of limbs

특성	나타나는 빈도
Dropped arches	가끔 (5–29%)
Increased muscle tone of arm or leg	가끔 (5–29%)
Long fingers	가끔 (5–29%)
Pes valgus	가끔 (5–29%)
Prominent fingertip pads	가끔 (5–29%)
Tapered finger	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Hearing impairment	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Recurrent middle ear infection	가끔 (5–29%)
Thickened helices	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Acid reflux	가끔 (5–29%)
Chronic constipation	가끔 (5–29%)
Feeding difficulties	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	가끔 (5–29%)
Growth delay	가끔 (5–29%)
Short stature	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Large testis	가끔 (5–29%)
Small kidney on one side	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent infections	가끔 (5–29%)
Recurrent respiratory infections	가끔 (5–29%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Strawberry mark	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Early onset of puberty	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Episodic fever	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: H4C5에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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