Trăsături

Trăsături asociate cu H4C5

H4 clustered histone 5

Human Phenotype Ontology asociază 116 trăsături cu H4C5, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

H4C5

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spastic diplegia	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Birthmark	Uneori (5–29%)
Curly hair	Uneori (5–29%)
Excessive wrinkled skin	Uneori (5–29%)
Hyperelastic skin	Uneori (5–29%)
Mole	Uneori (5–29%)
Prematurely aged appearance	Uneori (5–29%)
Reduced fat tissue below the skin	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Alternating exotropia	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Mild myopia	Uneori (5–29%)
Moderate myopia	Uneori (5–29%)
Monocular strabismus	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Uneori (5–29%)
Increased muscle tone of arm or leg	Uneori (5–29%)
Long fingers	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Prominent fingertip pads	Uneori (5–29%)
Tapered finger	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)
Thickened helices	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Chronic constipation	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)
Growth delay	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Large testis	Uneori (5–29%)
Small kidney on one side	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Strawberry mark	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Episodic fever	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu H4C5 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu