Traits

Traits linked to LZTFL1

leucine zipper transcription factor like 1

The Human Phenotype Ontology links 117 traits to LZTFL1, by body system: features seen in people with one of the gene's rare conditions.

LZTFL1

Abnormality of the genitourinary system

Trait	How often it is seen
Increased urine output	Always
Short penis	Always
Abnormality of the genitourinary system	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Cystic kidney disease	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Underdeveloped ovary	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Absent/small vagina	Sometimes (5–29%)
Decreased testicular size	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hydrometrocolpos	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Nephrotic syndrome	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Retina degeneration	Always
Rod-cone dystrophy	Always
Visual impairment	Always
Cone/cone-rod dystrophy	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal electroretinogram	Often (30–79%)
Blindness	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Macular atrophy	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Always
Global developmental delay	Always
Intellectual disability	Always
Neurodevelopmental delay	Very often (80–99%)
Autism	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Extreme thirst	Often (30–79%)
Incoordination	Often (30–79%)
Short attention span	Often (30–79%)
Specific learning disability	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Breathy speech	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the oral cavity	Often (30–79%)
Abnormality of the sense of smell	Often (30–79%)
Dental crowding	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
High palate	Often (30–79%)
Hyposmia	Often (30–79%)
Lost smell	Often (30–79%)
Decreased size of tooth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Medial flaring of the eyebrow	Sometimes (5–29%)
Nasal inflammation	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Always
Extra toe attached near the little toe	Always
Mesoaxial hand polydactyly	Always
More than five fingers or toes on hands or feet	Always
Mesoaxial polydactyly	Often (30–79%)
Postaxial polydactyly	Often (30–79%)
Short 4th long bone of foot	Often (30–79%)
Short fingers or toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Curvature of outermost bone of little finger	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
High liver enzymes	Often (30–79%)
Impaired fasting glucose	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Body fails to respond to insulin	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
All organs on wrong side of body	Always
Heart tip and four chambers point towards right side of body	Always
High blood pressure	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
Disease of the heart muscle	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Celiac disease	Rarely (1–4%)
Enlarged colon lacking nerve cells	Rarely (1–4%)
Inflammation of the large intestine	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Middle ear infection	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Abnormality of the endocrine system	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Always
Childhood-onset truncal obesity	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of the immune system

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

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	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 LZTFL1 and how often each is seen. Find out more at hpo.jax.org.

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