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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Visada
Flexed joint that cannot be straightened	Visada
Low muscle tone	Visada
Low muscle tone in trunk	Visada
Scoliosis	Visada
Spastic paraplegia	Visada
Spastic tetraplegia	Visada
Delayed bone maturation	Labai dažnai (80–99%)
Functional motor deficit	Labai dažnai (80–99%)
Lower limb spasticity	Labai dažnai (80–99%)
Abnormal muscle tone	Dažnai (30–79%)
Arthritis	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Generalized low muscle tone in neonate	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Polyarticular arthritis	Dažnai (30–79%)
Hunched back	Kartais (5–29%)
Joint stiffness	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Low muscle tone, in neonatal onset	Kartais (5–29%)
Progressive spasticity	Neužfiksuota
Rigidity	Neužfiksuota
Spastic walk	Neužfiksuota

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Severe infection	Visada
Antinuclear antibody positivity	Labai dažnai (80–99%)
Anti-complement component C1q antibody positivity	Dažnai (30–79%)
Anti-ribosome Po antibody positivity	Dažnai (30–79%)
Anti-titin antibody positivity	Dažnai (30–79%)
Antineutrophil antibody positivity	Dažnai (30–79%)
Decreased circulating complement C3 concentration	Dažnai (30–79%)
Decreased circulating complement C4 concentration	Dažnai (30–79%)
Malar rash	Dažnai (30–79%)
Recurrent infections	Dažnai (30–79%)
Recurrent respiratory infections	Dažnai (30–79%)
Anti-dsDNA antibody positivity	Kartais (5–29%)
Anti-La/SS-B antibody positivity	Kartais (5–29%)
Anti-nucleoporin 62 antibody positivity	Kartais (5–29%)
Anti-phosphatidic acid antibody positivity	Kartais (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Kartais (5–29%)
Anti-Sm antibody positivity	Kartais (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Kartais (5–29%)
Discoid lupus rash	Kartais (5–29%)
Serositis	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Anorexia	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Chronic constipation	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Functional abnormality of the gastrointestinal tract	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Hernia of the abdominal wall	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Gallbladder inflammation	Kartais (5–29%)
Feeding difficulties in infancy	Neužfiksuota
Poor swallowing	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Fever	Labai dažnai (80–99%)
High urine protein levels	Labai dažnai (80–99%)
Blood in urine	Dažnai (30–79%)
High urine neutrophil count	Dažnai (30–79%)
Abnormal CSF pyruvate family amino acid concentration	Kartais (5–29%)
High blood ammonia levels	Kartais (5–29%)
Higher than normal levels of lactate in blood	Kartais (5–29%)
Increased circulating pyruvate concentration	Kartais (5–29%)
Increased CSF lactate	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Cardiac failure	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Raynaud phenomenon	Dažnai (30–79%)
Stroke	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Abnormal T-wave	Neužfiksuota
Prolonged QTc interval	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Apnea	Visada
Intermittent overbreathing	Visada
Abnormal pattern of respiration	Labai dažnai (80–99%)
Respiratory function loss	Labai dažnai (80–99%)
Episodic tachypnea	Dažnai (30–79%)
Sudden episodic apnea	Dažnai (30–79%)
Central hypoventilation	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Decreased body weight	Visada
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Obesity	Kartais (5–29%)
Wasting syndrome	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Small hand	Visada
Wrist flexion contracture	Visada
Short foot	Dažnai (30–79%)
Curvature of little finger	Kartais (5–29%)
Webbed skin of 2nd-3rd toes	Kartais (5–29%)
High-arched foot	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping upper eyelid	Labai dažnai (80–99%)
Juvenile cataract	Dažnai (30–79%)
Noninflammatory retina disease	Retai (1–4 %)
Total ophthalmoplegia	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Hypospadias	Labai dažnai (80–99%)
Large testis	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Lupus nephritis	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Decreased blood leukocyte number	Dažnai (30–79%)
Hemolytic anemia	Kartais (5–29%)
Low platelet count	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Increased serum serotonin	Dažnai (30–79%)
Decreased function of male gonad	Kartais (5–29%)
Increased serum leptin	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Malaise	Labai dažnai (80–99%)
Coldness	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Large ears	Kartais (5–29%)
Low-set ears	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Hair loss	Dažnai (30–79%)
Photosensitive skin	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Abnormality of chromosome segregation	Labai dažnai (80–99%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Enlarged male breast	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
High-pitched cry	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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