Traits

Traits linked to SIX1

SIX homeobox 1

The Human Phenotype Ontology links 65 traits to SIX1, 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
Pit in front of the ear	Very often (80–99%)
Branchial anomaly	Often (30–79%)
Branchial cyst	Often (30–79%)
Branchial fistula	Often (30–79%)
Branchial sinus	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Abnormal lacrimal duct morphology	Sometimes (5–29%)
Abnormal nasolacrimal system morphology	Sometimes (5–29%)
Absent tear duct	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Lip pit	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Bifid uvula	Not recorded
Decreased size of tooth	Not recorded
Deep bite	Not recorded
Lip pits at corners of the mouth	Not recorded
Long face	Not recorded
Narrow face	Not recorded
Narrowing of the tear duct	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormality of the inner ear	Very often (80–99%)
Abnormality of the middle ear	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Abnormality of the middle ear ossicles	Often (30–79%)
Abnormality of the outer ear	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Absent ear canal	Often (30–79%)
Absent/small cochlea	Often (30–79%)
Conductive deafness	Often (30–79%)
Cupped ear	Often (30–79%)
Enlarged cochlear aqueduct	Often (30–79%)
Enlarged vestibular aqueduct	Often (30–79%)
Hypoplasia of the cochlea	Often (30–79%)
Lop ear	Often (30–79%)
Middle ear malformation	Often (30–79%)
Mixed hearing impairment	Often (30–79%)
Narrow ear canal	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Abnormal lateral semicircular canal morphology	Sometimes (5–29%)
Incomplete partition of the cochlea type II	Sometimes (5–29%)
Small ears	Sometimes (5–29%)
Cholesteatoma	Not recorded
Dilatated internal auditory canal	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent/small kidney	Often (30–79%)
Absent kidney on one side	Sometimes (5–29%)
Dilatation of renal calices	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Renal dysplasia	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Ureteropelvic junction obstruction	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Abnormal renal collecting system morphology	Not recorded
Abnormal rotation of the kidneys	Not recorded
Fatty kidney	Not recorded
Polycystic kidney dysplasia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Gustatory lacrimation	Sometimes (5–29%)
Abnormality of tear production	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dislocated hip since birth	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Euthyroid goiter	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Mild global developmental delay	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 SIX1 and how often each is seen. Find out more at hpo.jax.org.

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