Traits

Traits linked to HEPHL1

hephaestin like 1

The Human Phenotype Ontology links 31 traits to HEPHL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Aggressive behavior	Always
Difficulty articulating speech	Always
Global developmental delay	Always
Impulsivity	Always
Loss of developmental milestones	Always
Poor speech	Always
Snoring	Always

Abnormality of limbs

Trait	How often it is seen
Clinodactyly of the 5th toe	Always
Curvature of 4th toe	Always
Increased carrying angle	Always
Short 4th long bone of foot	Always
Short 5th long bone of foot	Always
Webbed 2nd and 3rd toes	Always

Abnormality of the integument

Trait	How often it is seen
Brittle nails	Always
Chicken skin	Always
Flattened and twisted hair	Always
Hair loss	Always
Small nail	Always
Trichorrhexis nodosa	Always

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Always
Decreased size of tooth	Always
Elf-like facial appearance	Always
Limited hair on end of eyebrow	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Mitral regurgitation	Always
Sinus bradycardia	Always
Tricuspid regurgitation	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Lower limb pain	Always

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always

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 HEPHL1 and how often each is seen. Find out more at hpo.jax.org.

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