Traits

Traits linked to PROKR2

prokineticin receptor 2

The Human Phenotype Ontology links 107 traits to PROKR2, 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
Abnormal erection	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Decreased fertility	Very often (80–99%)
Difficulty getting a full erection	Very often (80–99%)
Increased female sex drive	Very often (80–99%)
Non-obstructive azoospermia	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Undescended testes	Very often (80–99%)
Previous menstrual periods stop	Often (30–79%)
Small uterus	Often (30–79%)
Underdeveloped ovary	Often (30–79%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Absent kidney	Sometimes (5–29%)
Dyspareunia	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Absent kidney on one side	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Anxiety	Often (30–79%)
Aplasia of the olfactory bulb	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Extreme thirst	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Hand mirror movements	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Leg paralysis	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Ectopic posterior pituitary	Always
Hypogonadotropic hypogonadism	Always
Abnormality of the hypothalamus-pituitary axis	Very often (80–99%)
Absence of pubertal development	Very often (80–99%)
Absence of secondary sex characteristics	Very often (80–99%)
Anterior hypopituitarism	Very often (80–99%)
Decreased function of male gonad	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Female hypogonadism	Very often (80–99%)
Gonadotropin-releasing hormone deficiency	Very often (80–99%)
Underactive thyroid	Often (30–79%)
Underdeveloped pituitary gland	Often (30–79%)
Diabetes insipidus	Sometimes (5–29%)
Small adrenal glands	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
Low solidness and mass of the bones	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Abnormal skeletal development	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hypermobility of all joints	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic nerve hypoplasia	Very often (80–99%)
Septo-optic dysplasia	Very often (80–99%)
Visual impairment	Very often (80–99%)
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Abnormally close eyes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Hyposmia	Very often (80–99%)
Lost smell	Very often (80–99%)
Cleft palate	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Decreased number of teeth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Cleft upper lip	Not recorded

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Always
Sparse pubic hair	Always
Sparse body hair	Very often (80–99%)
Decreased ability to sweat	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Eunuchoid habitus	Very often (80–99%)
Faltering weight	Very often (80–99%)
Short stature	Very often (80–99%)
Abnormality of body height	Often (30–79%)
Obesity	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
High-arched foot	Sometimes (5–29%)
Increased mobility in finger joint	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Underdeveloped breasts	Very often (80–99%)
Wide-spaced nipples	Very often (80–99%)
Enlarged male breast	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Constipation	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the cardiovascular system

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

Abnormality of the voice

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

Constitutional symptom

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

Laboratory abnormality

Trait	How often it is seen
Low blood sugar	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 PROKR2 and how often each is seen. Find out more at hpo.jax.org.

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