Traits

Traits linked to KIF7

kinesin family member 7

The Human Phenotype Ontology links 168 traits to KIF7, by body system: features seen in people with one of the gene's rare conditions.

KIF7

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Depressed nasal bridge	Always
Frontal bossing	Always
Short neck	Always
Wide nasal bridge	Always
Zygomatic flattening	Always
Little lower jaw	Very often (80–99%)
Receding chin	Very often (80–99%)
Triangular mouth	Very often (80–99%)
Abnormal oral frenulum morphology	Often (30–79%)
Abnormality of the sense of smell	Often (30–79%)
Bifid uvula	Often (30–79%)
Broad forehead	Often (30–79%)
Broad nasal tip	Often (30–79%)
Bumpy tongue	Often (30–79%)
Cleft palate	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
Gingival cleft	Often (30–79%)
Hamartoma of tongue	Often (30–79%)
High palate	Often (30–79%)
Long face	Often (30–79%)
One sided cleft upper lip	Often (30–79%)
Prominent back of the head	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Sloping forehead	Often (30–79%)
Submucous cleft hard palate	Often (30–79%)
Tongue nodules	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Cleft upper lip	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Drooping upper lip	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Midline notch of upper alveolar ridge	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)
Alveolar process hypoplasia	Rarely (1–4%)
Big lower jaw	Rarely (1–4%)
Decreased size of teeth	Rarely (1–4%)
Delayed loss of baby teeth	Rarely (1–4%)
Excessive salivation	Rarely (1–4%)
Gum enlargement	Rarely (1–4%)
Narrow mouth	Rarely (1–4%)
Prominent palatine ridges	Rarely (1–4%)
Protruding tongue	Rarely (1–4%)
Smooth philtrum	Rarely (1–4%)
Wide mouth	Rarely (1–4%)
Abnormal facial shape	Not recorded
Prominent forehead	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Always
Knock knees	Always
Tapered finger	Always
Duplication of big toe bone	Very often (80–99%)
Duplication of thumb phalanx	Very often (80–99%)
Extra little finger	Very often (80–99%)
Extra thumb	Very often (80–99%)
Extra toe attached near the little toe	Very often (80–99%)
Preaxial foot polydactyly	Very often (80–99%)
Spindle-shaped finger	Very often (80–99%)
Curvature of finger	Often (30–79%)
Finger syndactyly	Often (30–79%)
Finger-like thumb	Often (30–79%)
Fused toes	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Cutaneous syndactyly	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Mesoaxial polydactyly	Sometimes (5–29%)
Smaller or shorter than typical limbs	Sometimes (5–29%)
Y-shaped central long bones of hand	Sometimes (5–29%)
Curvature of little finger	Not recorded
Notched outermost bone of the thumb	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Aplasia/Hypoplasia of the corpus callosum	Always
Molar tooth sign on MRI	Always
Absent septum pellucidum	Very often (80–99%)
Agenesis of corpus callosum	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Abnormal gait	Often (30–79%)
Anencephaly	Often (30–79%)
Ataxia	Often (30–79%)
Epilepsy	Often (30–79%)
Hypoplasia of olfactory tract	Often (30–79%)
Intracranial cystic lesion	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Arrhinencephaly	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Hypothalamic hamartoma	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Brain degeneration	Not recorded
Motor delay	Not recorded
Ventriculomegaly	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal development of end part of bone	Always
Enlarged joints	Always
Flat end part of bone	Always
Funnel chest	Always
Abnormality of the skeletal system	Very often (80–99%)
Delayed maturation of end part of long bone	Very often (80–99%)
Generalized decreased muscle tone	Very often (80–99%)
Multiple epiphyseal dysplasia	Very often (80–99%)
Low muscle tone	Often (30–79%)
Abnormal collarbone	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Abnormal vertebral morphology	Rarely (1–4%)
Pigeon chest	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Deeply set eye	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Notched pupil	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Fundus hypopigmentation	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)
Hypospadias	Often (30–79%)
Abnormal fallopian tube morphology	Sometimes (5–29%)
Absent kidney	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Abnormally shaped ears	Very often (80–99%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
Abnormal cardiac septum morphology	Not recorded
Abnormal pulmonary valve morphology	Not recorded
Pulmonary valve defects	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Abnormal connection between rectum and vagina	Not recorded
Absent anus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Often (30–79%)
Softening of voice box tissue	Often (30–79%)
Tracheal atresia	Often (30–79%)
Apnea	Sometimes (5–29%)
Episodic tachypnea	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Tall stature	Sometimes (5–29%)
Growth delay as children	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)
Premature birth	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	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 KIF7 and how often each is seen. Find out more at hpo.jax.org.

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