Traits

Traits linked to SYCE1

synaptonemal complex central element protein 1

The Human Phenotype Ontology links 11 traits to SYCE1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Male infertility	Always
Non-obstructive azoospermia	Always
Spermatogenesis maturation arrest	Always
Abnormal sperm development	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Obstructive azoospermia	Often (30–79%)
Primary amenorrhea	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Not recorded
Macular dystrophy	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Increased circulating gonadotropin level	Very often (80–99%)

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 SYCE1 and how often each is seen. Find out more at hpo.jax.org.

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