Traits

Traits linked to LRRC7

leucine rich repeat containing 7

The Human Phenotype Ontology links 154 traits to LRRC7, 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
Anxiety	Always
Ataxia	Always
Attention deficit	Always
Autism spectrum disorder	Always
Behavioral abnormality	Always
Brief seizures with staring spells	Always
Can't control feelings	Always
Cerebellar vermis atrophy	Always
Cerebral palsy	Always
Chiari type I malformation	Always
Clumsiness	Always
Complex febrile seizure	Always
Decreased reflex response	Always
Delayed ability to sit	Always
Delayed fine motor development	Always
Delayed motor skills	Always
Depression	Always
Difficulty articulating speech	Always
Difficulty falling asleep	Always
Dysgraphia	Always
Dystonia	Always
EEG abnormality	Always
Febrile seizure (within the age range of 3 months to 6 years)	Always
Fluid-filled cyst in spinal cord	Always
Frequent temper tantrums	Always
Global developmental delay	Always
Grammar-specific speech disorder	Always
Hallucinations	Always
Hallucinations of sound	Always
Hand tremor	Always
Headache	Always
Impulsivity	Always
Inability to coordinate movements when walking	Always
Inability to speak	Always
Inability to walk	Always
Incoordination	Always
Increased appetite	Always
Intellectual disability	Always
Intellectual disability, mild	Always
Intellectual disability, severe	Always
IQ between 34 and 49	Always
Irritability	Always
Low frustration tolerance	Always
Migraine	Always
Mild global developmental delay	Always
Moderate global developmental delay	Always
Moderate receptive language delay	Always
Pain insensitivity	Always
Pauses in breathing while sleeping	Always
Psychosis	Always
Reading disability	Always
Reduced impulse control	Always
Resting tremor	Always
Restlessness	Always
Selective mutism	Always
Self-injurious behavior	Always
Severe global developmental delay	Always
Short attention span	Always
Short corpus callosum	Always
Slow movements	Always
Thin corpus callosum	Always
Typical absence seizure	Always
Underdevelopment of part of brain called corpus callosum	Always
Unsteady walk	Always
Visual hallucinations	Always
Aggressive behavior	Very often (80–99%)
Autism	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Delayed ability to walk	Often (30–79%)
Epilepsy	Often (30–79%)
Difficulty sleeping	Sometimes (5–29%)
Interictal epileptiform activity	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal columella morphology	Always
Big calvaria	Always
Broad face	Always
Broad opening between the eyelids	Always
Epicanthus inversus	Always
High palate	Always
Pierre-Robin sequence	Always
Prominent nasal bridge	Always
Underdeveloped tissue around nostril	Always
Wide nasal bridge	Always
Wide nose	Always
Abnormally large tongue	Often (30–79%)
Abnormally small head	Often (30–79%)
Cleft palate	Often (30–79%)
Frontal bossing	Often (30–79%)
One sided cleft upper lip	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Gap between teeth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular hypotonia	Always
Basal ganglia calcification	Always
Cogwheel rigidity	Always
Double-Jointed	Always
Generalized decreased muscle tone	Always
Kyphoscoliosis	Always
Low muscle tone, in neonatal onset	Always
Muscle weakness	Always
Pigeon chest	Always
Spastic diplegia	Always
Low muscle tone in trunk	Often (30–79%)
Low muscle tone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Involuntary, rapid, rhythmic eye movements	Always
Drooping of both upper eyelids	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Hypometric saccades	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Functional abnormality of the gastrointestinal tract	Always
Jaundice	Always
Feeding difficulties	Very often (80–99%)
Pyloric stenosis	Often (30–79%)
Chronic constipation	Sometimes (5–29%)
Stool holding	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Knee osteoarthritis	Always
Short foot	Always
Small hand	Always
Dropped arches	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Obesity	Always
Overweight	Always
Proportionate short stature	Always
Faltering weight	Often (30–79%)
Tall stature	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Always
Asthma	Always
Eczema	Always
Food allergy	Always
Recurrent infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Always
Multiple birthmarks	Always
Patchy lightened skin	Always
Skin tags	Always
Spinal dimple	Always

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Enuresis	Always
Hydronephrosis	Often (30–79%)
Urinary urgency	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Always
Heart murmur	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Constitutional symptom

Trait	How often it is seen
Pain	Always

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 LRRC7 and how often each is seen. Find out more at hpo.jax.org.

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