Traits

Traits linked to SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

The Human Phenotype Ontology links 70 traits to SPECC1L, by body system: features seen in people with one of the gene's rare conditions.

SPECC1L

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Always
Pit in front of the ear	Always
Tessier number 4 facial cleft	Always
Thin red part of the upper lip	Always
Decreased volume of lip	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Long philtrum	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Born with teeth	Often (30–79%)
Coronal craniosynostosis	Often (30–79%)
Dental crowding	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping lower lip	Often (30–79%)
Early closure of midline skull joint	Often (30–79%)
Frontal bossing	Often (30–79%)
Little lower jaw	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent forehead	Often (30–79%)
Round face	Often (30–79%)
Short nose	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Widow's peak	Often (30–79%)
Broad head shape	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Dimple chin	Sometimes (5–29%)
Early eruption of teeth	Sometimes (5–29%)
Cleft upper lip	Not recorded
Depressed nasal bridge	Not recorded

Abnormality of limbs

Trait	How often it is seen
Talipes calcaneovalgus	Always
Small hand	Very often (80–99%)
Curvature of little finger	Often (30–79%)
Finger syndactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short toe	Often (30–79%)
Deep palm line	Sometimes (5–29%)
Broad palm	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Wide-set eyes	Very often (80–99%)
Drooping of both upper eyelids	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Notched pupil	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Heart shaped uterus	Often (30–79%)
Hydrocele testis	Often (30–79%)
Scrotum surrounds penis	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Female pseudohermaphroditism	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Global developmental delay	Often (30–79%)
Panic attack	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Omphalocele	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the ear

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

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Hypopigmented macule	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

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 SPECC1L and how often each is seen. Find out more at hpo.jax.org.

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