Traits

Traits linked to GORAB

golgin, RAB6 interacting

The Human Phenotype Ontology links 49 traits to GORAB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	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%)
Double-Jointed	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
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%)
Increased susceptibility to fractures	Not recorded
Irregular vertebral endplates	Not recorded
Kyphoscoliosis	Not recorded
Permanent flexion of the finger or toe	Not recorded

Abnormality of the integument

Trait	How often it is seen
Premature skin wrinkling	Always
Wrinkled skin of hands and feet in newborn	Always
Hyperelastic skin	Very often (80–99%)
Loose redundant skin	Very often (80–99%)
Thin skin	Very often (80–99%)
Prematurely aged appearance	Sometimes (5–29%)
Hanging skin	Not recorded
Premature aged appearance	Not recorded

Abnormality of limbs

Trait	How often it is seen
Finger joint hyperextensibility	Always
Hip dislocation	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Bowed shankbone	Not recorded
Bowed thighbone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Decreased size of maxilla	Always
Abnormally small head	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Gum disease	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Severe short stature	Very often (80–99%)
Growth delay	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	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 GORAB and how often each is seen. Find out more at hpo.jax.org.

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