Traits

Traits linked to FEZF1

FEZ family zinc finger 1

The Human Phenotype Ontology links 53 traits to FEZF1, 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
Decreased testicular size	Always
Primary amenorrhea	Always
Short penis	Always
Undescended testes	Always
Abnormal erection	Very often (80–99%)
Decreased fertility	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Absent kidney	Sometimes (5–29%)
Dyspareunia	Sometimes (5–29%)
Infertility	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Decreased circulating follicle stimulating hormone concentration	Always
Decreased circulating luteinizing hormone level	Always
Decreased serum estradiol	Always
Decreased serum testosterone level	Always
Hypogonadotropic hypogonadism	Always
Reduced response to gonadotropin-releasing hormone stimulation test	Always
Anterior hypopituitarism	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Gonadotropin-releasing hormone deficiency	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Hand mirror movements	Sometimes (5–29%)
Leg paralysis	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Often (30–79%)
Abnormal skeletal development	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Lost smell	Always
Hyposmia	Very often (80–99%)
Cleft palate	Sometimes (5–29%)
Decreased number of teeth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal color vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Always
Sparse pubic hair	Always
Ichthyosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Underdeveloped breasts	Often (30–79%)
Enlarged male breast	Sometimes (5–29%)

Abnormality of the cardiovascular system

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

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	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 FEZF1 and how often each is seen. Find out more at hpo.jax.org.

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