Traits

Traits linked to HDAC6

histone deacetylase 6

The Human Phenotype Ontology links 31 traits to HDAC6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Cupping of wide portion of long bone of hand	Very often (80–99%)
Disproportionately short upper portion of limb	Very often (80–99%)
Metaphyseal chondrodysplasia	Very often (80–99%)
Short foot	Very often (80–99%)
Short palm	Very often (80–99%)
Abnormal heel bone	Often (30–79%)
Metaphyseal cupping	Not recorded
Metaphyseal cupping of proximal phalanges	Not recorded
Short outer part of limbs	Not recorded
Small heel bone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Flat nose	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Short nose	Very often (80–99%)
Little lower jaw	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Big calvaria	Not recorded
Decreased bone formation of skull	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Very often (80–99%)
Hypoplastic iliac wing	Very often (80–99%)
Thin ribs	Often (30–79%)
11 pairs of ribs	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Intellectual disability, mild	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Hyperkeratosis	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 HDAC6 and how often each is seen. Find out more at hpo.jax.org.

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