Traits

Traits linked to SHOC2

SHOC2 leucine rich repeat scaffold protein

The Human Phenotype Ontology links 79 traits to SHOC2, 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 forehead	Always
Long eyelashes	Always
Relatively large head	Always
Sparse scalp hair	Always
Big calvaria	Very often (80–99%)
Low hairline at back of neck	Very often (80–99%)
Prominent forehead	Very often (80–99%)
Short nose	Very often (80–99%)
Webbed neck	Very often (80–99%)
Deep philtrum	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Short neck	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Abnormality of the palate	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Full lower lip	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Loose anagen hair	Always
Sparse hair	Always
Chicken skin	Often (30–79%)
Curly hair	Often (30–79%)
Hyperelastic skin	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Abnormal fingernails	Sometimes (5–29%)
Birthmark	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)
Liver spots	Sometimes (5–29%)
Underdeveloped toenails	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Global developmental delay	Always
Delayed ability to walk	Very often (80–99%)
Intellectual disability	Very often (80–99%)
More active than typical	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Strawberry mark	Often (30–79%)
Aortic regurgitation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Delayed bone maturation	Very often (80–99%)
Generalized decreased muscle tone	Very often (80–99%)
Abnormality of the sternum	Often (30–79%)
Funnel chest	Often (30–79%)
Abnormal intervertebral disk morphology	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the elbow	Sometimes (5–29%)
Deep palm line	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Low-set ears	Very often (80–99%)
Large ears	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Always
Birth weight > 90th percentile	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of coagulation	Sometimes (5–29%)
Myelofibrosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Duplicated collecting system	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Often (30–79%)
Hoarse voice	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Eczema	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 SHOC2 and how often each is seen. Find out more at hpo.jax.org.

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