Traits

Traits linked to PLEC

plectin

The Human Phenotype Ontology links 137 traits to PLEC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Always
Absence of part of skin at birth	Always
Aplasia cutis congenita on trunk or limbs	Always
Hypoplastic dermoepidermal hemidesmosomes	Always
Intra-epidermal blistering	Always
Itching	Always
Lamina lucida cleavage	Always
Poor nail formation	Always
Stratum basale cleavage	Always
Aplasia cutis congenita over the scalp vertex	Very often (80–99%)
Congenital localized absence of skin	Very often (80–99%)
Hair loss	Very often (80–99%)
Hyperconvex fingernails	Very often (80–99%)
Skin vesicle	Very often (80–99%)
Small fingernail	Very often (80–99%)
Absent/small skin	Often (30–79%)
Acral blistering	Often (30–79%)
Fragile skin	Often (30–79%)
Hyperpigmented skin patches	Often (30–79%)
Hypopigmented macule	Often (30–79%)
Open skin sore	Often (30–79%)
Papule	Often (30–79%)
Skin degeneration	Often (30–79%)
Skin erosion	Often (30–79%)
Skin fragility with non-scarring blistering	Often (30–79%)
Focal absence of scalp tissue	Sometimes (5–29%)
Milk spot	Sometimes (5–29%)
Sunken or indented skin due to damage	Sometimes (5–29%)
Abnormality of the skin	Not recorded
Absent nails	Not recorded
Atypical nail growth	Not recorded
Axillary pterygium	Not recorded
Overgrowth and curving of toenails	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased variability in muscle fiber diameter	Always
Motheaten muscle fibers	Always
Muscle fiber splitting	Always
Muscle flaccidity	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Progressive proximal muscle weakness	Very often (80–99%)
Axial muscle atrophy	Often (30–79%)
Difficulty walking up stairs	Often (30–79%)
EMG: myopathic abnormalities	Often (30–79%)
Frequent falls	Often (30–79%)
Gowers sign	Often (30–79%)
Muscle degeneration	Often (30–79%)
Abnormality of bone mineral density	Sometimes (5–29%)
Fatigable weakness	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized muscle weakness	Sometimes (5–29%)
Muscular dystrophy	Sometimes (5–29%)
Inability to touch chin to chest	Rarely (1–4%)
Arthrogryposis multiplex congenita	Not recorded
Excessive inward curvature of lower spine	Not recorded
Increased connective tissue	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Nasal tip, upturned	Always
Oral mucosal blisters	Always
Underdeveloped tissue around nostril	Always
Cranial defect	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Hair loss on scalp from scarring condition	Sometimes (5–29%)
Paralysis of both sides of the face	Sometimes (5–29%)
Dental cavities	Not recorded
Everted eyelid	Not recorded
Thin dental enamel	Not recorded

Abnormality of limbs

Trait	How often it is seen
Plantar hyperkeratosis	Always
Limb-girdle muscle weakness	Often (30–79%)
Palmoplantar blistering	Often (30–79%)
Pelvic girdle muscle weakness	Often (30–79%)
Thickening of palms and soles	Often (30–79%)
Distal lower limb muscle weakness	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Increased size of calf muscles	Sometimes (5–29%)
Proximal upper limb muscle hypertrophy	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Difficulty finding words	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Inability to speak	Very often (80–99%)
Spinal dysraphism	Very often (80–99%)
Loss of ability to walk	Often (30–79%)
Motor delay	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Tactile hypersensitivity	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Eye muscle paralysis	Very often (80–99%)
Oculomotor nerve palsy	Very often (80–99%)
Weakness of muscles controlling eye movement	Very often (80–99%)
Drooping upper eyelid	Often (30–79%)
Drooping of both upper eyelids	Sometimes (5–29%)
Abnormality of the eye	Not recorded
Corneal inflammation	Not recorded
Punctate keratitis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Urethrovesical occlusion	Always
Urinary tract abnormalities	Often (30–79%)
Absent bladder	Sometimes (5–29%)
Glomerular sclerosis	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Renal dysplasia	Sometimes (5–29%)
Ureterocele	Sometimes (5–29%)
Urethra issue	Sometimes (5–29%)
Urethral stricture	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Congenital pyloric atresia	Always
Abdominal bloating	Often (30–79%)
Vomiting	Often (30–79%)
Extra kidney	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Abnormality of the abdominal organs	Not recorded
Birth defect in which part of esophagus did not develop	Not recorded
Intractable diarrhea	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Rarely (1–4%)
Exertional breathlessness	Rarely (1–4%)
Partial or complete collapse of part or entire lung	Rarely (1–4%)
Pulmonary scarring	Rarely (1–4%)
Neonatal respiratory distress	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Sometimes (5–29%)
Abnormality of the cardiovascular system	Rarely (1–4%)
Complete right bundle branch block	Rarely (1–4%)
Abnormality of the heart	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged bleeding time	Sometimes (5–29%)
Bruising susceptibility	Not recorded
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Unusual bronchiolitis	Rarely (1–4%)
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Sometimes (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the ear

Trait	How often it is seen
Small ears	Always

Abnormality of the voice

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

Constitutional symptom

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

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

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 PLEC and how often each is seen. Find out more at hpo.jax.org.

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