Traits

Traits linked to PNPLA6

patatin like domain 6, lysophospholipase

The Human Phenotype Ontology links 109 traits to PNPLA6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis atrophy	Always
Decreased reflex response	Always
Degeneration of cerebellum	Always
Difficulty articulating speech	Always
Difficulty performing quick and alternating movements	Always
Inability to coordinate movements when walking	Always
Intellectual disability	Always
Intention tremor	Always
Unsteady walk	Always
Abnormal speech pattern	Very often (80–99%)
Ataxia	Very often (80–99%)
Babinski sign	Often (30–79%)
Brisk knee jerk	Often (30–79%)
Degeneration of the spinal cord	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Motor axonal neuropathy	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Abnormal shape of upper motor neuron	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Personality changes	Sometimes (5–29%)
Epilepsy	Rarely (1–4%)
Abnormal gait	Not recorded
Absent reflexes	Not recorded
Explosive speech	Not recorded
Spinocerebellar atrophy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Chorioretinal atrophy	Always
Involuntary, rapid, rhythmic eye movements	Always
Pigmentary retinopathy	Always
Retina degeneration	Always
Retinal pigment epithelial atrophy	Always
Severe near sightedness	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Chorioretinal dystrophy	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Cat eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Breakdown of light-sensitive cells in back of eye	Not recorded
Central heterochromia	Not recorded
Extreme sensitivity of the eyes to light	Not recorded
Progressive loss of vision	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Decreased circulating follicle stimulating hormone concentration	Always
Decreased circulating luteinizing hormone level	Always
Decreased response to growth hormone stimulation test	Always
Decreased serum testosterone level	Always
Hypogonadotropic hypogonadism	Always
Reduced circulating growth hormone concentration	Always
Reduced circulating prolactin concentration	Always
Underdeveloped pituitary gland	Always
Abnormality of the hypothalamus-pituitary axis	Very often (80–99%)
Underactive thyroid	Very often (80–99%)
Decreased circulating gonadotropin concentration	Not recorded
Delayed puberty	Not recorded

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always
Decreased Achilles reflex	Very often (80–99%)
Extra finger	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Decreased knee jerk reflex	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Abnormality of the hand	Not recorded
Distal lower limb muscle weakness	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Distal muscle wasting	Often (30–79%)
Generalized muscle wasting	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Spastic paraplegia	Often (30–79%)
Progressive spastic paraplegia	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Always
Decreased fertility	Very often (80–99%)
Short penis	Very often (80–99%)
Renal failure	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Displacement of the urethral meatus	Sometimes (5–29%)
Smaller than typical growth of scrotum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Long eyelashes	Always
Abnormal dentition	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Obesity	Very often (80–99%)
Growth delay	Often (30–79%)
Small for gestational age	Often (30–79%)
Severe short stature	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormal antitragus morphology	Very often (80–99%)
Sensorineural hearing impairment	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)
Accessory nipple	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Always
Hair loss	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Neonatal hyperbilirubinemia	Often (30–79%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Excessive buildup of connective tissue and scarring of liver at birth	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 PNPLA6 and how often each is seen. Find out more at hpo.jax.org.

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