Traits

Traits linked to ZFPM2

zinc finger protein, FOG family member 2

The Human Phenotype Ontology links 80 traits to ZFPM2, by body system: features seen in people with one of the gene's rare conditions.

ZFPM2

Abnormality of the genitourinary system

Trait	How often it is seen
Gonadal dysgenesis	Always
Sex reversal	Always
Undescended testes	Always
Abnormal internal genitalia	Very often (80–99%)
Abnormal labia morphology	Very often (80–99%)
Abnormal scrotum morphology	Very often (80–99%)
Abnormal sex determination	Very often (80–99%)
Abnormal vagina morphology	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Ambiguous external genitalia	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Enlarged clitoris	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Hypospadias	Very often (80–99%)
Male infertility	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Short penis	Very often (80–99%)
Streak ovary	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Underdeveloped vagina	Very often (80–99%)
Urogenital sinus anomaly	Very often (80–99%)
Vanishing testis	Very often (80–99%)
Fused inner lips	Often (30–79%)
Gonadoblastoma	Often (30–79%)
Ovarian gonadoblastoma	Sometimes (5–29%)
Testicular gonadoblastoma	Sometimes (5–29%)
Nephroblastoma	Rarely (1–4%)
Nephrotic syndrome	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Elevated circulating follicle stimulating hormone level	Very often (80–99%)
Elevated circulating luteinizing hormone level	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Delayed puberty	Often (30–79%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Adrenal insufficiency	Sometimes (5–29%)
Primary gonadal insufficiency	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Aplasia of the left hemidiaphragm	Always
Scoliosis	Always
Congenital diaphragmatic hernia	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Absent/small diaprhagm	Often (30–79%)
Diaphragmatic eventration	Often (30–79%)
Prominent sternum	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pulmonary fissure architecture	Always
Breathing difficulties	Always
Collapsed lung	Always
Neonatal respiratory distress	Always
Poorly developed lungs	Always
Pulmonary hyperplasia	Always
Low blood oxygen level	Often (30–79%)
Respiratory failure	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal of nasal shape	Very often (80–99%)
Broad forehead	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Long, narrow head	Often (30–79%)
Pit in front of the ear	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased blood pressure in blood vessels of lungs	Always
Abnormal cardiovascular system morphology	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Total anomalous pulmonary venous return	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Always
Epilepsy	Always
Inability to coordinate movements when walking	Always
Too much cerebrospinal fluid in the brain	Always

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Always

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Always

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Hiccup	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 ZFPM2 and how often each is seen. Find out more at hpo.jax.org.

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