Traits

Traits linked to KCTD1

potassium channel tetramerization domain containing 1

The Human Phenotype Ontology links 81 traits to KCTD1, 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
Abnormality of the scalp	Very often (80–99%)
Taurodontia	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Fullness of eyelids	Often (30–79%)
Absence of lower premolar	Sometimes (5–29%)
Absence of six year molar	Sometimes (5–29%)
Absence of twelve year molar	Sometimes (5–29%)
Absence of upper premolar	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Cleft eyelid	Sometimes (5–29%)
Cleft lower eyelid	Sometimes (5–29%)
Cranial defect	Sometimes (5–29%)
Decreased length of dental roots	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Extra teeth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Hypoplasia of the dental root	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Radiculomegaly	Sometimes (5–29%)
Short columella	Sometimes (5–29%)
Torus palatinus	Sometimes (5–29%)
Narrow eyelid opening	Rarely (1–4%)
Absence of adult teeth	Not recorded

Abnormality of the integument

Trait	How often it is seen
Absence of part of skin at birth	Always
Limited armpit hair	Always
Sparse pubic hair	Always
Abnormality of the skin	Very often (80–99%)
Decreased ability to sweat	Very often (80–99%)
Sparse hair	Very often (80–99%)
Abnormal fingernails	Often (30–79%)
Atypical nail growth	Often (30–79%)
Fine hair	Often (30–79%)
Dry skin	Sometimes (5–29%)
Patchy baldness	Sometimes (5–29%)
Photosensitive skin	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormal antihelix morphology	Very often (80–99%)
Overfolded ears	Very often (80–99%)
Small earlobe	Very often (80–99%)
Small ears	Very often (80–99%)
Underdeveloped antitragus	Very often (80–99%)
Underdeveloped tragus	Very often (80–99%)
Anteverted ears	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Cupped ear	Not recorded
Prominent ear	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Often (30–79%)
Renal failure	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Absent kidney on one side	Sometimes (5–29%)
Double ureter	Sometimes (5–29%)
Pyelonephritis	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Often (30–79%)
Broad thumb	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
3-4 finger cutaneous syndactyly	Not recorded
Webbed 2nd and 3rd toes	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)
Asymmetric pupil sizes	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Cardiac myxoma	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent breast	Very often (80–99%)
Absent/small nipples	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Duplication of renal pelvis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Multiple fatty lumps	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Lateral ventricle dilatation	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Type 1 diabetes	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 KCTD1 and how often each is seen. Find out more at hpo.jax.org.

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