Traits

Traits linked to GPKOW

G-patch domain and KOW motifs

The Human Phenotype Ontology links 24 traits to GPKOW, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Holoprosencephaly	Very often (80–99%)
Abnormal diencephalon morphology	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Hydranencephaly	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Short neck	Often (30–79%)
Sloping forehead	Often (30–79%)
Little lower jaw	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Limitation of joint mobility	Very often (80–99%)
Multiple joint contractures	Very often (80–99%)
Wide rib cage	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Often (30–79%)
Inward turned thumb	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Very often (80–99%)
Abnormal pleura morphology	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent/small kidney	Sometimes (5–29%)

Abnormality of the integument

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

Growth abnormality

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

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