Traits

Traits linked to HERC1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

The Human Phenotype Ontology links 63 traits to HERC1, 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
Big calvaria	Always
Big lower jaw	Always
Downward slanting of the opening between the eyelids	Always
Frontal bossing	Always
High palate	Always
Long face	Always
Long neck	Always
Prominent nasal bridge	Always
Sparse eyebrow	Always
Triangular face	Always
Broad eyebrow	Very often (80–99%)
Prominent forehead	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Drooling	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Decreased depth of eye sockets	Sometimes (5–29%)
Decreased facial muscle tone	Sometimes (5–29%)
Metopic synostosis	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Inability to coordinate movements when walking	Always
Intellectual disability	Always
Intellectual disability, severe	Very often (80–99%)
Abnormal gait	Often (30–79%)
Absent speech development	Often (30–79%)
Communicating hydrocephalus	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Enlarged brain	Often (30–79%)
Epilepsy	Often (30–79%)
Grand mal seizures	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Diffuse white matter abnormalities	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Severe expressive language delay	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Thick corpus callosum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Hunched back	Always
Low muscle tone	Always
Prominent swayback	Always
Scoliosis	Always
Kyphoscoliosis	Often (30–79%)
Asymmetric chest	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	Always
Disproportionate tall stature	Always
Tall stature	Always
General overgrowth	Very often (80–99%)
Slender build	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Large hands	Always
Long slender fingers	Very often (80–99%)
Long foot	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Bulging eye	Often (30–79%)
Severe near sightedness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low blood sugar in newborn	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 HERC1 and how often each is seen. Find out more at hpo.jax.org.

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