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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Her zaman
Flexed joint that cannot be straightened	Her zaman
Low muscle tone	Her zaman
Low muscle tone in trunk	Her zaman
Scoliosis	Her zaman
Spastic paraplegia	Her zaman
Spastic tetraplegia	Her zaman
Delayed bone maturation	Çok sık (%80–99)
Functional motor deficit	Çok sık (%80–99)
Lower limb spasticity	Çok sık (%80–99)
Abnormal muscle tone	Sık (%30–79)
Arthritis	Sık (%30–79)
Funnel chest	Sık (%30–79)
Generalized low muscle tone in neonate	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Sık (%30–79)
Muscle degeneration	Sık (%30–79)
Polyarticular arthritis	Sık (%30–79)
Hunched back	Bazen (%5–29)
Joint stiffness	Bazen (%5–29)
Kyphoscoliosis	Bazen (%5–29)
Low muscle tone, in neonatal onset	Bazen (%5–29)
Progressive spasticity	Kaydedilmedi
Rigidity	Kaydedilmedi
Spastic walk	Kaydedilmedi

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Severe infection	Her zaman
Antinuclear antibody positivity	Çok sık (%80–99)
Anti-complement component C1q antibody positivity	Sık (%30–79)
Anti-ribosome Po antibody positivity	Sık (%30–79)
Anti-titin antibody positivity	Sık (%30–79)
Antineutrophil antibody positivity	Sık (%30–79)
Decreased circulating complement C3 concentration	Sık (%30–79)
Decreased circulating complement C4 concentration	Sık (%30–79)
Malar rash	Sık (%30–79)
Recurrent infections	Sık (%30–79)
Recurrent respiratory infections	Sık (%30–79)
Anti-dsDNA antibody positivity	Bazen (%5–29)
Anti-La/SS-B antibody positivity	Bazen (%5–29)
Anti-nucleoporin 62 antibody positivity	Bazen (%5–29)
Anti-phosphatidic acid antibody positivity	Bazen (%5–29)
Anti-Ro52/TRIM21 antibody positivity	Bazen (%5–29)
Anti-Sm antibody positivity	Bazen (%5–29)
Anti-U1 ribonucleoprotein antibody positivity	Bazen (%5–29)
Discoid lupus rash	Bazen (%5–29)
Serositis	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties	Her zaman
Anorexia	Çok sık (%80–99)
Acid reflux	Sık (%30–79)
Chronic constipation	Sık (%30–79)
Constipation	Sık (%30–79)
Functional abnormality of the gastrointestinal tract	Sık (%30–79)
Gastrostomy tube feeding in infancy	Sık (%30–79)
Hernia of the abdominal wall	Sık (%30–79)
Poor suck	Sık (%30–79)
Gallbladder inflammation	Bazen (%5–29)
Feeding difficulties in infancy	Kaydedilmedi
Poor swallowing	Kaydedilmedi

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Fever	Çok sık (%80–99)
High urine protein levels	Çok sık (%80–99)
Blood in urine	Sık (%30–79)
High urine neutrophil count	Sık (%30–79)
Abnormal CSF pyruvate family amino acid concentration	Bazen (%5–29)
High blood ammonia levels	Bazen (%5–29)
Higher than normal levels of lactate in blood	Bazen (%5–29)
Increased circulating pyruvate concentration	Bazen (%5–29)
Increased CSF lactate	Bazen (%5–29)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Cardiac failure	Sık (%30–79)
High blood pressure	Sık (%30–79)
Raynaud phenomenon	Sık (%30–79)
Stroke	Bazen (%5–29)
Swollen lymph nodes	Bazen (%5–29)
Abnormal T-wave	Kaydedilmedi
Prolonged QTc interval	Kaydedilmedi

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Apnea	Her zaman
Intermittent overbreathing	Her zaman
Abnormal pattern of respiration	Çok sık (%80–99)
Respiratory function loss	Çok sık (%80–99)
Episodic tachypnea	Sık (%30–79)
Sudden episodic apnea	Sık (%30–79)
Central hypoventilation	Kaydedilmedi

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Decreased body weight	Her zaman
Short stature	Çok sık (%80–99)
Weight loss	Çok sık (%80–99)
Faltering weight	Sık (%30–79)
Growth delay	Sık (%30–79)
Obesity	Bazen (%5–29)
Wasting syndrome	Kaydedilmedi

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Small hand	Her zaman
Wrist flexion contracture	Her zaman
Short foot	Sık (%30–79)
Curvature of little finger	Bazen (%5–29)
Webbed skin of 2nd-3rd toes	Bazen (%5–29)
High-arched foot	Kaydedilmedi

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Drooping upper eyelid	Çok sık (%80–99)
Juvenile cataract	Sık (%30–79)
Noninflammatory retina disease	Seyrek (%1–4)
Total ophthalmoplegia	Kaydedilmedi

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Hypospadias	Çok sık (%80–99)
Large testis	Çok sık (%80–99)
Undescended testes	Çok sık (%80–99)
Lupus nephritis	Sık (%30–79)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Decreased blood leukocyte number	Sık (%30–79)
Hemolytic anemia	Bazen (%5–29)
Low platelet count	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Increased serum serotonin	Sık (%30–79)
Decreased function of male gonad	Bazen (%5–29)
Increased serum leptin	Bazen (%5–29)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Fatigue	Çok sık (%80–99)
Malaise	Çok sık (%80–99)
Coldness	Sık (%30–79)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Large ears	Bazen (%5–29)
Low-set ears	Kaydedilmedi

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Hair loss	Sık (%30–79)
Photosensitive skin	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Abnormality of chromosome segregation	Çok sık (%80–99)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Enlarged male breast	Bazen (%5–29)

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
High-pitched cry	Çok sık (%80–99)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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