Traits

Traits linked to PYCR1

pyrroline-5-carboxylate reductase 1

The Human Phenotype Ontology links 89 traits to PYCR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Broad forehead	Always
Decreased size of tooth	Always
Decreased volume of lip	Always
Narrow eyelid opening	Always
Narrow nasal ridge	Always
Narrow nose	Always
Premature sagging cheeks	Always
Prominent forehead	Always
Underdeveloped tissue around nostril	Always
Wide fontanelles	Always
Bulbous nose	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
High palate	Often (30–79%)
Long philtrum	Often (30–79%)
Midface retrusion	Often (30–79%)
Triangular face	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Frontal bossing	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Flexed joint that cannot be straightened	Always
Osteoporosis	Always
Abnormal bone maturation	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Beaking of vertebral bodies	Very often (80–99%)
Biconcave vertebral bodies	Very often (80–99%)
Compression fracture of a vertebral body	Very often (80–99%)
Osteopenia	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Decreased muscle mass	Often (30–79%)
Funnel chest	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal shape of end part of bone	Sometimes (5–29%)
Flattened vertebrae	Sometimes (5–29%)
Hernia	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Deeply set eye	Always
Developmental glaucoma	Always
Glaucoma	Always
Wide-set eyes	Always
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Abnormally close eyes	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Dermal translucency	Always
Excessive wrinkled skin	Always
Fine hair	Always
Hanging skin	Always
Sparse hair	Always
Thin skin	Always
Tight skin	Always
Hyperelastic skin	Very often (80–99%)
Loose redundant skin	Very often (80–99%)
Prematurely aged appearance	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bunion	Always
Club feet	Always
Dropped arches	Always
Elbow flexion contracture	Always
Dislocated hip since birth	Often (30–79%)
Hip dislocation	Often (30–79%)
Talipes	Sometimes (5–29%)
Bowing of the long bones	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Motor delay	Always
Intellectual disability	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Intellectual disability, mild	Sometimes (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Prominent ear	Always
Prominent ear helix	Always
Low-set ears	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Always
Severe short stature	Very often (80–99%)
Growth delay	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Always
Pyloric stenosis	Always
Acid reflux	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Prominent veins	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always

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 PYCR1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test