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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Decreased muscle tone in infant	Aina
Flexed joint that cannot be straightened	Aina
Low muscle tone	Aina
Low muscle tone in trunk	Aina
Scoliosis	Aina
Spastic paraplegia	Aina
Spastic tetraplegia	Aina
Delayed bone maturation	Hyvin usein (80–99%)
Functional motor deficit	Hyvin usein (80–99%)
Lower limb spasticity	Hyvin usein (80–99%)
Abnormal muscle tone	Usein (30–79%)
Arthritis	Usein (30–79%)
Funnel chest	Usein (30–79%)
Generalized low muscle tone in neonate	Usein (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Usein (30–79%)
Muscle degeneration	Usein (30–79%)
Polyarticular arthritis	Usein (30–79%)
Hunched back	Joskus (5–29%)
Joint stiffness	Joskus (5–29%)
Kyphoscoliosis	Joskus (5–29%)
Low muscle tone, in neonatal onset	Joskus (5–29%)
Progressive spasticity	Ei kirjattu
Rigidity	Ei kirjattu
Spastic walk	Ei kirjattu

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Severe infection	Aina
Antinuclear antibody positivity	Hyvin usein (80–99%)
Anti-complement component C1q antibody positivity	Usein (30–79%)
Anti-ribosome Po antibody positivity	Usein (30–79%)
Anti-titin antibody positivity	Usein (30–79%)
Antineutrophil antibody positivity	Usein (30–79%)
Decreased circulating complement C3 concentration	Usein (30–79%)
Decreased circulating complement C4 concentration	Usein (30–79%)
Malar rash	Usein (30–79%)
Recurrent infections	Usein (30–79%)
Recurrent respiratory infections	Usein (30–79%)
Anti-dsDNA antibody positivity	Joskus (5–29%)
Anti-La/SS-B antibody positivity	Joskus (5–29%)
Anti-nucleoporin 62 antibody positivity	Joskus (5–29%)
Anti-phosphatidic acid antibody positivity	Joskus (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Joskus (5–29%)
Anti-Sm antibody positivity	Joskus (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Joskus (5–29%)
Discoid lupus rash	Joskus (5–29%)
Serositis	Joskus (5–29%)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Feeding difficulties	Aina
Anorexia	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Chronic constipation	Usein (30–79%)
Constipation	Usein (30–79%)
Functional abnormality of the gastrointestinal tract	Usein (30–79%)
Gastrostomy tube feeding in infancy	Usein (30–79%)
Hernia of the abdominal wall	Usein (30–79%)
Poor suck	Usein (30–79%)
Gallbladder inflammation	Joskus (5–29%)
Feeding difficulties in infancy	Ei kirjattu
Poor swallowing	Ei kirjattu

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Fever	Hyvin usein (80–99%)
High urine protein levels	Hyvin usein (80–99%)
Blood in urine	Usein (30–79%)
High urine neutrophil count	Usein (30–79%)
Abnormal CSF pyruvate family amino acid concentration	Joskus (5–29%)
High blood ammonia levels	Joskus (5–29%)
Higher than normal levels of lactate in blood	Joskus (5–29%)
Increased circulating pyruvate concentration	Joskus (5–29%)
Increased CSF lactate	Joskus (5–29%)

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Cardiac failure	Usein (30–79%)
High blood pressure	Usein (30–79%)
Raynaud phenomenon	Usein (30–79%)
Stroke	Joskus (5–29%)
Swollen lymph nodes	Joskus (5–29%)
Abnormal T-wave	Ei kirjattu
Prolonged QTc interval	Ei kirjattu

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Apnea	Aina
Intermittent overbreathing	Aina
Abnormal pattern of respiration	Hyvin usein (80–99%)
Respiratory function loss	Hyvin usein (80–99%)
Episodic tachypnea	Usein (30–79%)
Sudden episodic apnea	Usein (30–79%)
Central hypoventilation	Ei kirjattu

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Decreased body weight	Aina
Short stature	Hyvin usein (80–99%)
Weight loss	Hyvin usein (80–99%)
Faltering weight	Usein (30–79%)
Growth delay	Usein (30–79%)
Obesity	Joskus (5–29%)
Wasting syndrome	Ei kirjattu

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Small hand	Aina
Wrist flexion contracture	Aina
Short foot	Usein (30–79%)
Curvature of little finger	Joskus (5–29%)
Webbed skin of 2nd-3rd toes	Joskus (5–29%)
High-arched foot	Ei kirjattu

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Drooping upper eyelid	Hyvin usein (80–99%)
Juvenile cataract	Usein (30–79%)
Noninflammatory retina disease	Harvinainen (1–4 %)
Total ophthalmoplegia	Ei kirjattu

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Hypospadias	Hyvin usein (80–99%)
Large testis	Hyvin usein (80–99%)
Undescended testes	Hyvin usein (80–99%)
Lupus nephritis	Usein (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Decreased blood leukocyte number	Usein (30–79%)
Hemolytic anemia	Joskus (5–29%)
Low platelet count	Joskus (5–29%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Increased serum serotonin	Usein (30–79%)
Decreased function of male gonad	Joskus (5–29%)
Increased serum leptin	Joskus (5–29%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Fatigue	Hyvin usein (80–99%)
Malaise	Hyvin usein (80–99%)
Coldness	Usein (30–79%)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Large ears	Joskus (5–29%)
Low-set ears	Ei kirjattu

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Hair loss	Usein (30–79%)
Photosensitive skin	Joskus (5–29%)

Abnormal cellular phenotype

Trait	Kuinka usein sitä esiintyy
Abnormality of chromosome segregation	Hyvin usein (80–99%)

Abnormality of the breast

Trait	Kuinka usein sitä esiintyy
Enlarged male breast	Joskus (5–29%)

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
High-pitched cry	Hyvin usein (80–99%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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