Traits

Traits linked to ZFX

zinc finger protein X-linked

The Human Phenotype Ontology links 193 traits to ZFX, by body system: features seen in people with one of the gene's rare conditions.

ZFX

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Abnormally large tongue	Often (30–79%)
Broad eyebrow	Often (30–79%)
Eye folds	Often (30–79%)
Long philtrum	Often (30–79%)
Monobrow	Often (30–79%)
Pointed chin	Often (30–79%)
Smooth philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Broad neck	Sometimes (5–29%)
Broad nostril	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Delayed closure of the soft spot on the skull	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Delayed loss of baby teeth	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Extra teeth	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Long nose	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Pierre-Robin sequence	Sometimes (5–29%)
Prominent eyelashes	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Relatively large head	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Tall shaped head	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Wider-than-typical soft spot of skull	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Intellectual disability	Always
Delayed ability to walk	Very often (80–99%)
Delayed fine motor development	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Agitation	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Boiling mad	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Choroid plexus cyst	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Increased appetite	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Low frustration tolerance	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Snoring	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Always
Involuntary, rapid, rhythmic eye movements	Always
Visual impairment	Always
Astigmatism	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Congenital nystagmus	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Superior oblique muscle weakness	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Scoliosis	Always
Low muscle tone	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Absence of some of the sacral and coccygeal bones	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Displacement of one backbone compared to another	Sometimes (5–29%)
Flattened vertebrae	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Irregular vertebral endplates	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Narrow spinal canal	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Spondylolysis	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bunion	Sometimes (5–29%)
Clubbing of fingers and toes	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Deep palm line	Sometimes (5–29%)
Finger joint hyperextensibility	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Front half of foot turns inward	Sometimes (5–29%)
Large hands	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)
Short foot	Sometimes (5–29%)
Short toe	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Small toe	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Constipation	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Hepatocellular adenoma	Sometimes (5–29%)
Inflammation of the esophagus	Sometimes (5–29%)
Poor suck	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Dilation of Virchow-Robin spaces	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mesocardia	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Asymmetric ears	Sometimes (5–29%)
Conductive deafness	Sometimes (5–29%)
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Large earlobe	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always
Absence of part of skin at birth	Sometimes (5–29%)
Deep-set nails	Sometimes (5–29%)
Fair hair	Sometimes (5–29%)
Fine hair	Sometimes (5–29%)
Partial absent skin pigmentation	Sometimes (5–29%)
Slow-growing hair	Sometimes (5–29%)
Small nail	Sometimes (5–29%)
Thick hair	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)
Elevated blood parathyroid hormone level	Sometimes (5–29%)
Hypogonadotropic hypogonadism	Sometimes (5–29%)
Parathyroid adenoma	Sometimes (5–29%)
Small pituitary gland	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Often (30–79%)
Premature birth	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)
Subdural hemorrhage	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High blood calcium levels	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 ZFX and how often each is seen. Find out more at hpo.jax.org.

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