Traits

Traits linked to SEMA5A

semaphorin 5A

The Human Phenotype Ontology links 27 traits to SEMA5A, 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	Very often (80–99%)
Eye folds	Very often (80–99%)
Round face	Very often (80–99%)
Small retruded chin	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
Short neck	Often (30–79%)
Skin tag in front of the ear	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Scoliosis	Often (30–79%)
Abnormality of bone mineral density	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
High pitched voice	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Small hand	Often (30–79%)
Finger syndactyly	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)
Cat cry	Very often (80–99%)

Growth abnormality

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

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 SEMA5A and how often each is seen. Find out more at hpo.jax.org.

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