Traits

Traits linked to RELN

reelin

The Human Phenotype Ontology links 74 traits to RELN, 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
Fewer or absent grooves in brain	Always
Global developmental delay	Always
Grand mal seizures	Always
4-layered lissencephaly	Very often (80–99%)
EEG with focal epileptiform discharges	Very often (80–99%)
Hallucinations of sound	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Microlissencephaly	Very often (80–99%)
Seizure affecting one half of brain	Very often (80–99%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Difficulty finding words	Often (30–79%)
Epilepsy	Often (30–79%)
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	Often (30–79%)
Focal aware seizure	Often (30–79%)
Focal aware sensory seizure with auditory features	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Focal sensory seizure with auditory features	Often (30–79%)
Interictal epileptiform activity	Often (30–79%)
Profound global developmental delay	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Abnormality of neuronal migration	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Deja vu	Sometimes (5–29%)
Focal automatism seizure	Sometimes (5–29%)
Focal autonomic seizure	Sometimes (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Sometimes (5–29%)
Focal clonic seizure	Sometimes (5–29%)
Focal sensory seizure with cephalic sensation	Sometimes (5–29%)
Focal sensory seizure with vestibular features	Sometimes (5–29%)
Focal sensory seizure with visual features	Sometimes (5–29%)
Nocturnal seizures	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Visual hallucinations	Sometimes (5–29%)
Behavioral abnormality	Rarely (1–4%)
Depression	Rarely (1–4%)
Generalized-onset seizure	Rarely (1–4%)
Impulsivity	Rarely (1–4%)
Migraine	Rarely (1–4%)
Brain imaging abnormality	Not recorded
Hypoplasia of the pons	Not recorded
Small cerebellum	Not recorded
Thick cerebral cortex	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Small head present at birth	Very often (80–99%)
Abnormality of cranium	Often (30–79%)
Narrow forehead	Often (30–79%)
Prominent back of the head	Often (30–79%)
Sloping forehead	Often (30–79%)
Small forehead	Often (30–79%)
Small retruded chin	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Wide nose	Often (30–79%)
Focal sensory seizure with olfactory features	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Abnormally small head	Not recorded
Prominent nasal bridge	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Underdeveloped spleen	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Abnormal muscle tone	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Retina issue	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the respiratory system

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

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	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 RELN and how often each is seen. Find out more at hpo.jax.org.

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