Traits

Traits linked to SPRED1

sprouty related EVH1 domain containing 1

The Human Phenotype Ontology links 58 traits to SPRED1, 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
Behavioral abnormality	Often (30–79%)
Specific learning disability	Often (30–79%)
Attention deficit	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Brain imaging abnormality	Rarely (1–4%)
Chiari type I malformation	Rarely (1–4%)
Cognitive impairment	Rarely (1–4%)
Delayed speech and language development	Rarely (1–4%)
Dystonia	Rarely (1–4%)
Epilepsy	Rarely (1–4%)
Motor delay	Rarely (1–4%)
Optic nerve glioma	Not recorded
Tumors of the central nervous system	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)
Fatty deposits in skin around the eyes	Rarely (1–4%)
Downward slanting of the opening between the eyelids	Not recorded
Eye folds	Not recorded
High palate	Not recorded
High, narrow palate	Not recorded
Lisch nodules	Not recorded
Little lower jaw	Not recorded
Low hairline at back of neck	Not recorded
Short neck	Not recorded
Triangular face	Not recorded

Abnormality of the integument

Trait	How often it is seen
Birthmark	Always
Multiple birthmarks	Very often (80–99%)
Axillary freckling	Often (30–79%)
Freckles in groin region	Often (30–79%)
Freckling	Often (30–79%)
Neurofibroma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the sternum	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Multiple fatty lumps	Sometimes (5–29%)
Low muscle tone	Rarely (1–4%)
Scoliosis	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Mitral valve prolapse	Rarely (1–4%)
Narrowing of pulmonic valve	Rarely (1–4%)
Paroxysmal atrial tachycardia	Rarely (1–4%)
Supravalvar pulmonary stenosis	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)
Vestibular schwannoma	Rarely (1–4%)
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Rarely (1–4%)
Male urethral meatus stenosis	Rarely (1–4%)
Nephroblastoma	Rarely (1–4%)
Ovarian cancer	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Rarely (1–4%)
More than five fingers or toes on hands or feet	Rarely (1–4%)
Diaphyseal dysplasia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Rarely (1–4%)
Drooping upper eyelid	Not recorded
Wide-set eyes	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute monocytic leukemia	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrointestinal desmoid tumor	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Non-small cell lung carcinoma	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Short stature	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 SPRED1 and how often each is seen. Find out more at hpo.jax.org.

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