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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Decreased muscle tone in infant	항상
Flexed joint that cannot be straightened	항상
Low muscle tone	항상
Low muscle tone in trunk	항상
Scoliosis	항상
Spastic paraplegia	항상
Spastic tetraplegia	항상
Delayed bone maturation	매우 자주 (80–99%)
Functional motor deficit	매우 자주 (80–99%)
Lower limb spasticity	매우 자주 (80–99%)
Abnormal muscle tone	자주 (30–79%)
Arthritis	자주 (30–79%)
Funnel chest	자주 (30–79%)
Generalized low muscle tone in neonate	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	자주 (30–79%)
Muscle degeneration	자주 (30–79%)
Polyarticular arthritis	자주 (30–79%)
Hunched back	가끔 (5–29%)
Joint stiffness	가끔 (5–29%)
Kyphoscoliosis	가끔 (5–29%)
Low muscle tone, in neonatal onset	가끔 (5–29%)
Progressive spasticity	기록되지 않음
Rigidity	기록되지 않음
Spastic walk	기록되지 않음

Abnormality of the immune system

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

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties	항상
Anorexia	매우 자주 (80–99%)
Acid reflux	자주 (30–79%)
Chronic constipation	자주 (30–79%)
Constipation	자주 (30–79%)
Functional abnormality of the gastrointestinal tract	자주 (30–79%)
Gastrostomy tube feeding in infancy	자주 (30–79%)
Hernia of the abdominal wall	자주 (30–79%)
Poor suck	자주 (30–79%)
Gallbladder inflammation	가끔 (5–29%)
Feeding difficulties in infancy	기록되지 않음
Poor swallowing	기록되지 않음

Laboratory abnormality

Trait	나타나는 빈도
Fever	매우 자주 (80–99%)
High urine protein levels	매우 자주 (80–99%)
Blood in urine	자주 (30–79%)
High urine neutrophil count	자주 (30–79%)
Abnormal CSF pyruvate family amino acid concentration	가끔 (5–29%)
High blood ammonia levels	가끔 (5–29%)
Higher than normal levels of lactate in blood	가끔 (5–29%)
Increased circulating pyruvate concentration	가끔 (5–29%)
Increased CSF lactate	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Cardiac failure	자주 (30–79%)
High blood pressure	자주 (30–79%)
Raynaud phenomenon	자주 (30–79%)
Stroke	가끔 (5–29%)
Swollen lymph nodes	가끔 (5–29%)
Abnormal T-wave	기록되지 않음
Prolonged QTc interval	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Apnea	항상
Intermittent overbreathing	항상
Abnormal pattern of respiration	매우 자주 (80–99%)
Respiratory function loss	매우 자주 (80–99%)
Episodic tachypnea	자주 (30–79%)
Sudden episodic apnea	자주 (30–79%)
Central hypoventilation	기록되지 않음

Growth abnormality

Trait	나타나는 빈도
Decreased body weight	항상
Short stature	매우 자주 (80–99%)
Weight loss	매우 자주 (80–99%)
Faltering weight	자주 (30–79%)
Growth delay	자주 (30–79%)
Obesity	가끔 (5–29%)
Wasting syndrome	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Small hand	항상
Wrist flexion contracture	항상
Short foot	자주 (30–79%)
Curvature of little finger	가끔 (5–29%)
Webbed skin of 2nd-3rd toes	가끔 (5–29%)
High-arched foot	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Drooping upper eyelid	매우 자주 (80–99%)
Juvenile cataract	자주 (30–79%)
Noninflammatory retina disease	드물게 (1–4%)
Total ophthalmoplegia	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Hypospadias	매우 자주 (80–99%)
Large testis	매우 자주 (80–99%)
Undescended testes	매우 자주 (80–99%)
Lupus nephritis	자주 (30–79%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Decreased blood leukocyte number	자주 (30–79%)
Hemolytic anemia	가끔 (5–29%)
Low platelet count	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Increased serum serotonin	자주 (30–79%)
Decreased function of male gonad	가끔 (5–29%)
Increased serum leptin	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Fatigue	매우 자주 (80–99%)
Malaise	매우 자주 (80–99%)
Coldness	자주 (30–79%)

Abnormality of the ear

Trait	나타나는 빈도
Large ears	가끔 (5–29%)
Low-set ears	기록되지 않음

Abnormality of the integument

Trait	나타나는 빈도
Hair loss	자주 (30–79%)
Photosensitive skin	가끔 (5–29%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Abnormality of chromosome segregation	매우 자주 (80–99%)

Abnormality of the breast

Trait	나타나는 빈도
Enlarged male breast	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
High-pitched cry	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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