Traits

Traits linked to PIGV

phosphatidylinositol glycan anchor biosynthesis class V

The Human Phenotype Ontology links 91 traits to PIGV, 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
Broad nasal tip	Very often (80–99%)
Downturned corners of mouth	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Broad opening between the eyelids	Often (30–79%)
Tented mouth	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Abnormal parietal bone morphology	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Broad philtrum	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Decreased head circumference	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Increased head circumference	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Midface retrusion	Not recorded
Short nose	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Global developmental delay	Always
Intellectual disability	Always
Epilepsy	Very often (80–99%)
Grand mal seizures	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Cerebral hypomyelination	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
EEG with polyspike wave complexes	Sometimes (5–29%)
EEG with spike-wave complexes	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Delayed myelination	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short outermost finger bone	Always
Shortening of all outermost bones of the fingers	Very often (80–99%)
Delayed maturation of wrist bone	Often (30–79%)
Curvature of digit	Sometimes (5–29%)
Short toe	Sometimes (5–29%)
Tapered finger	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the rectum	Often (30–79%)
Anteriorly placed anus	Often (30–79%)
Constipation	Often (30–79%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Increased size of eyes	Often (30–79%)
Farsightedness	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Shallow anterior chamber	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Decreased muscle tone in infant	Very often (80–99%)
Abnormal formation of the hip	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Cupped ear	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)
Hearing impairment	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Spider veins	Sometimes (5–29%)
Abnormality of the heart	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Sometimes (5–29%)
Abnormally shaped kidney	Not recorded

Abnormality of the integument

Trait	How often it is seen
Small nail	Often (30–79%)
Increased nail curvature	Not recorded

Abnormality of the breast

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

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	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 PIGV and how often each is seen. Find out more at hpo.jax.org.

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