Traits

Traits linked to MECP2

methyl-CpG binding protein 2

The Human Phenotype Ontology links 250 traits to MECP2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Absent speech development	Alltid
Apraxia	Alltid
Brief seizures with staring spells	Alltid
Delayed ability to roll over	Alltid
Delayed ability to sit	Alltid
Delayed ability to walk	Alltid
Delayed speech and language development	Alltid
Dystonia	Alltid
Encephalopathy	Alltid
Epilepsy	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
Intellectual disability, mild	Alltid
Intellectual disability, severe	Alltid
IQ less than 20	Alltid
Loss of developmental milestones	Alltid
Persistent head lag	Alltid
Poor eye contact	Alltid
Progressive degeneration of movement	Alltid
Repeated seizures without recovery between them	Alltid
Repetitive compulsive behavior	Alltid
Resting tremor	Alltid
Restlessness	Alltid
Severe global developmental delay	Alltid
Slow movements	Alltid
Stereotypical hand wringing	Alltid
Tonic seizure	Alltid
Abnormal gait	Svært ofte (80–99 %)
Abnormal speech pattern	Svært ofte (80–99 %)
Abnormality of movement	Svært ofte (80–99 %)
Agitation	Svært ofte (80–99 %)
Autism spectrum disorder	Svært ofte (80–99 %)
Chorea	Svært ofte (80–99 %)
Difficulty sleeping	Svært ofte (80–99 %)
EEG abnormality	Svært ofte (80–99 %)
Hyperactive deep tendon reflexes	Svært ofte (80–99 %)
Involuntary movements	Svært ofte (80–99 %)
Irritability	Svært ofte (80–99 %)
Loss of acquired spoken language	Svært ofte (80–99 %)
Loss of speech	Svært ofte (80–99 %)
More active than typical	Svært ofte (80–99 %)
Progressive language deterioration	Svært ofte (80–99 %)
Recurrent hand flapping	Svært ofte (80–99 %)
Repetitive movements	Svært ofte (80–99 %)
Aggressive behavior	Ofte (30–79 %)
Anxiety	Ofte (30–79 %)
Bipolar disorder	Ofte (30–79 %)
Choreoathetosis	Ofte (30–79 %)
EEG with focal slow activity	Ofte (30–79 %)
EEG with generalized slow activity	Ofte (30–79 %)
Focal EEG discharges with secondary generalization	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Hand apraxia	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Inability to speak	Ofte (30–79 %)
Inability to walk	Ofte (30–79 %)
IQ between 34 and 49	Ofte (30–79 %)
Limb apraxia	Ofte (30–79 %)
Limb myoclonus	Ofte (30–79 %)
Loss of ability to walk	Ofte (30–79 %)
Loss of acquired purposeful hand skills	Ofte (30–79 %)
Neonatal seizure	Ofte (30–79 %)
Overactive lower leg reflex	Ofte (30–79 %)
Pain insensitivity	Ofte (30–79 %)
Poor social interactions	Ofte (30–79 %)
Restrictive behavior	Ofte (30–79 %)
Teeth grinding	Ofte (30–79 %)
Tongue thrusting	Ofte (30–79 %)
Tremor	Ofte (30–79 %)
Abnormal autonomic nervous system physiology	Noen ganger (5–29 %)
Abnormal fear-induced behavior	Noen ganger (5–29 %)
Can't control feelings	Noen ganger (5–29 %)
Degeneration of cerebrum	Noen ganger (5–29 %)
Delayed motor skills	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Developmental stagnation	Noen ganger (5–29 %)
Generalized myoclonic seizure	Noen ganger (5–29 %)
Impaired pain sensation	Noen ganger (5–29 %)
Inappropriate crying	Noen ganger (5–29 %)
Inappropriate laughter	Noen ganger (5–29 %)
Infantile spasms	Noen ganger (5–29 %)
More grooves in brain	Noen ganger (5–29 %)
Multifocal epileptiform discharges	Noen ganger (5–29 %)
Panic attack	Noen ganger (5–29 %)
Parkinsonism	Noen ganger (5–29 %)
Pill-rolling tremor	Noen ganger (5–29 %)
Psychosis	Noen ganger (5–29 %)
Shuffled walk	Noen ganger (5–29 %)
Stooped posture	Noen ganger (5–29 %)
Wide based walk	Noen ganger (5–29 %)
Ataxia	Ikke registrert
Autism	Ikke registrert
Babinski sign	Ikke registrert
Boiling mad	Ikke registrert
Decrease in size of the outer layer of the brain due to loss of brain cells	Ikke registrert
Gait apraxia	Ikke registrert
Impaired use of nonverbal behaviors	Ikke registrert
Increased reflexes	Ikke registrert
Inflexible adherence to routines	Ikke registrert
Instability or lack of coordination of central trunk muscles	Ikke registrert
Jerking	Ikke registrert
Lack of peer relationships	Ikke registrert
Lack of spontaneous play	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Alltid
Decreased facial muscle tone	Alltid
Drooling	Alltid
Zygomatic flattening	Alltid
Drooping lower lip	Svært ofte (80–99 %)
Eye folds	Svært ofte (80–99 %)
Narrow opening between the eyelids	Svært ofte (80–99 %)
Progressively abnormally small cranium	Svært ofte (80–99 %)
Tented mouth	Svært ofte (80–99 %)
Development of small head that was not present at birth	Ofte (30–79 %)
Midface retrusion	Ofte (30–79 %)
Abnormal color of the oral mucosa	Noen ganger (5–29 %)
Abnormality of salivation	Noen ganger (5–29 %)
Big calvaria	Noen ganger (5–29 %)
Broad head shape	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Inflammation of the lips	Noen ganger (5–29 %)
Mouth sore	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Prominent nasal bridge	Noen ganger (5–29 %)
Upward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Wide nasal bridge	Noen ganger (5–29 %)
Widely spaced teeth	Noen ganger (5–29 %)
Small head present at birth	Sjelden (1–4%)
Abnormal dentition	Ikke registrert
Depressed nasal bridge	Ikke registrert
Disturbance of facial expression	Ikke registrert
Excessive salivation	Ikke registrert
Little lower jaw	Ikke registrert
Narrow mouth	Ikke registrert
Short neck	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Decreased muscle tone in infant	Alltid
Flexed joint that cannot be straightened	Alltid
Low muscle tone	Alltid
Low muscle tone in trunk	Alltid
Scoliosis	Alltid
Spastic paraplegia	Alltid
Spastic tetraplegia	Alltid
Delayed bone maturation	Svært ofte (80–99 %)
Functional motor deficit	Svært ofte (80–99 %)
Lower limb spasticity	Svært ofte (80–99 %)
Abnormal muscle tone	Ofte (30–79 %)
Arthritis	Ofte (30–79 %)
Funnel chest	Ofte (30–79 %)
Generalized low muscle tone in neonate	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Muscle degeneration	Ofte (30–79 %)
Polyarticular arthritis	Ofte (30–79 %)
Hunched back	Noen ganger (5–29 %)
Joint stiffness	Noen ganger (5–29 %)
Kyphoscoliosis	Noen ganger (5–29 %)
Low muscle tone, in neonatal onset	Noen ganger (5–29 %)
Progressive spasticity	Ikke registrert
Rigidity	Ikke registrert
Spastic walk	Ikke registrert

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Severe infection	Alltid
Antinuclear antibody positivity	Svært ofte (80–99 %)
Anti-complement component C1q antibody positivity	Ofte (30–79 %)
Anti-ribosome Po antibody positivity	Ofte (30–79 %)
Anti-titin antibody positivity	Ofte (30–79 %)
Antineutrophil antibody positivity	Ofte (30–79 %)
Decreased circulating complement C3 concentration	Ofte (30–79 %)
Decreased circulating complement C4 concentration	Ofte (30–79 %)
Malar rash	Ofte (30–79 %)
Recurrent infections	Ofte (30–79 %)
Recurrent respiratory infections	Ofte (30–79 %)
Anti-dsDNA antibody positivity	Noen ganger (5–29 %)
Anti-La/SS-B antibody positivity	Noen ganger (5–29 %)
Anti-nucleoporin 62 antibody positivity	Noen ganger (5–29 %)
Anti-phosphatidic acid antibody positivity	Noen ganger (5–29 %)
Anti-Ro52/TRIM21 antibody positivity	Noen ganger (5–29 %)
Anti-Sm antibody positivity	Noen ganger (5–29 %)
Anti-U1 ribonucleoprotein antibody positivity	Noen ganger (5–29 %)
Discoid lupus rash	Noen ganger (5–29 %)
Serositis	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Alltid
Anorexia	Svært ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Chronic constipation	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Functional abnormality of the gastrointestinal tract	Ofte (30–79 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)
Hernia of the abdominal wall	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Gallbladder inflammation	Noen ganger (5–29 %)
Feeding difficulties in infancy	Ikke registrert
Poor swallowing	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fever	Svært ofte (80–99 %)
High urine protein levels	Svært ofte (80–99 %)
Blood in urine	Ofte (30–79 %)
High urine neutrophil count	Ofte (30–79 %)
Abnormal CSF pyruvate family amino acid concentration	Noen ganger (5–29 %)
High blood ammonia levels	Noen ganger (5–29 %)
Higher than normal levels of lactate in blood	Noen ganger (5–29 %)
Increased circulating pyruvate concentration	Noen ganger (5–29 %)
Increased CSF lactate	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Cardiac failure	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Raynaud phenomenon	Ofte (30–79 %)
Stroke	Noen ganger (5–29 %)
Swollen lymph nodes	Noen ganger (5–29 %)
Abnormal T-wave	Ikke registrert
Prolonged QTc interval	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Apnea	Alltid
Intermittent overbreathing	Alltid
Abnormal pattern of respiration	Svært ofte (80–99 %)
Respiratory function loss	Svært ofte (80–99 %)
Episodic tachypnea	Ofte (30–79 %)
Sudden episodic apnea	Ofte (30–79 %)
Central hypoventilation	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Decreased body weight	Alltid
Short stature	Svært ofte (80–99 %)
Weight loss	Svært ofte (80–99 %)
Faltering weight	Ofte (30–79 %)
Growth delay	Ofte (30–79 %)
Obesity	Noen ganger (5–29 %)
Wasting syndrome	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Small hand	Alltid
Wrist flexion contracture	Alltid
Short foot	Ofte (30–79 %)
Curvature of little finger	Noen ganger (5–29 %)
Webbed skin of 2nd-3rd toes	Noen ganger (5–29 %)
High-arched foot	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Drooping upper eyelid	Svært ofte (80–99 %)
Juvenile cataract	Ofte (30–79 %)
Noninflammatory retina disease	Sjelden (1–4%)
Total ophthalmoplegia	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Hypospadias	Svært ofte (80–99 %)
Large testis	Svært ofte (80–99 %)
Undescended testes	Svært ofte (80–99 %)
Lupus nephritis	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Decreased blood leukocyte number	Ofte (30–79 %)
Hemolytic anemia	Noen ganger (5–29 %)
Low platelet count	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Increased serum serotonin	Ofte (30–79 %)
Decreased function of male gonad	Noen ganger (5–29 %)
Increased serum leptin	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Svært ofte (80–99 %)
Malaise	Svært ofte (80–99 %)
Coldness	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Large ears	Noen ganger (5–29 %)
Low-set ears	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Hair loss	Ofte (30–79 %)
Photosensitive skin	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Abnormality of chromosome segregation	Svært ofte (80–99 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Enlarged male breast	Noen ganger (5–29 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
High-pitched cry	Svært ofte (80–99 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MECP2 and how often each is seen. Find out more at hpo.jax.org.

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