Traits

Traits linked to MSH4

mutS homolog 4

The Human Phenotype Ontology links 32 traits to MSH4, 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
Early menopause	Always
Female infertility	Always
Gonadal dysgenesis	Always
Male infertility	Always
Non-obstructive azoospermia	Always
Previous menstrual periods stop	Always
Decreased fertility	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Absent/small uterus	Often (30–79%)
Streak ovary	Often (30–79%)
Absent sperm in semen	Not recorded
Ambiguous external genitalia	Not recorded
Low sperm count	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating follicle stimulating hormone level	Always
Elevated circulating luteinizing hormone level	Always
Decreased serum estradiol	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis of vertebrae	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of secondary sexual hair	Very often (80–99%)
Sparse pubic hair	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Absent/small breasts	Often (30–79%)

Abnormality of the ear

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

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary scarring	Rarely (1–4%)

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Laboratory abnormality	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 MSH4 and how often each is seen. Find out more at hpo.jax.org.

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