Traits

Traits linked to H4C5

H4 clustered histone 5

The Human Phenotype Ontology links 116 traits to H4C5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic diplegia	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Sometimes (5–29%)
Curly hair	Sometimes (5–29%)
Excessive wrinkled skin	Sometimes (5–29%)
Hyperelastic skin	Sometimes (5–29%)
Mole	Sometimes (5–29%)
Prematurely aged appearance	Sometimes (5–29%)
Reduced fat tissue below the skin	Sometimes (5–29%)
Spinal dimple	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Alternating exotropia	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Mild myopia	Sometimes (5–29%)
Moderate myopia	Sometimes (5–29%)
Monocular strabismus	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Long fingers	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Prominent fingertip pads	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Recurrent middle ear infection	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Large testis	Sometimes (5–29%)
Small kidney on one side	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Strawberry mark	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to H4C5 and how often each is seen. Find out more at hpo.jax.org.

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