MECP2 duplication
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 97.4% | 38/39 |
| Female | 2.6% | 1/39 |
| Indifferent | 0% | 0/39 |
| Unknown | 0% | 0/39 |
| General | ||
| Birth Length abnormalities | 4.5% | 1/22 |
| < P3 : Birth length less than 3rd percentile | 4.5% | 1/22 |
| Birth Weight abnormalities | 11.5% | 3/26 |
| < P3 : Small for gestational age | 11.5% | 3/26 |
| Birth Head circumference abnormalities | 0% | 0/24 |
| Current Height abnormalities | 45.5% | 10/22 |
| < P3 : Short stature | 40.9% | 9/22 |
| > P98 : Tall stature | 4.5% | 1/22 |
| Current Weight abnormalities | 33.3% | 7/21 |
| < P3 : Decreased body weight | 33.3% | 7/21 |
| Current Head circumference abnormalities | 28.6% | 8/28 |
| < P3 : Microcephaly | 21.4% | 6/28 |
| > P98 : Macrocephaly | 7.1% | 2/28 |
| Neurology | ||
| Neurological abnormalities | 94.7% | 36/38 |
| Generalized hypotonia | 65.8% | 25/38 |
| Bilateral tonic-clonic seizure | 21.1% | 8/38 |
| Seizure | 21.1% | 8/38 |
| Generalized myoclonic seizure | 15.8% | 6/38 |
| Ataxia | 13.2% | 5/38 |
| Gait ataxia | 13.2% | 5/38 |
| obsolete Infantile axial hypotonia | 13.2% | 5/38 |
| Atonic seizure | 10.5% | 4/38 |
| Lower limb spasticity | 10.5% | 4/38 |
| Spasticity | 7.9% | 3/38 |
| Abnormal pyramidal sign | 5.3% | 2/38 |
| Developmental regression | 5.3% | 2/38 |
| Dystonia | 5.3% | 2/38 |
| Focal myoclonic seizure | 5.3% | 2/38 |
| Limb hypertonia | 5.3% | 2/38 |
| Motor stereotypy | 5.3% | 2/38 |
| Multifocal epileptiform discharges | 5.3% | 2/38 |
| Myoclonus | 5.3% | 2/38 |
| Neonatal hypotonia | 5.3% | 2/38 |
| obsolete Central hypotonia | 5.3% | 2/38 |
| Progressive spasticity | 5.3% | 2/38 |
| Abdominal distention | 2.6% | 1/38 |
| Babinski sign | 2.6% | 1/38 |
| Cerebral palsy | 2.6% | 1/38 |
| Facial hypotonia | 2.6% | 1/38 |
| Fatigable weakness of swallowing muscles | 2.6% | 1/38 |
| Focal impaired awareness seizure | 2.6% | 1/38 |
| Generalized tonic seizure | 2.6% | 1/38 |
| Generalized-onset seizure | 2.6% | 1/38 |
| Generalized non-motor (absence) seizure | 2.6% | 1/38 |
| Hip contracture | 2.6% | 1/38 |
| Hyperactive deep tendon reflexes | 2.6% | 1/38 |
| Knee flexion contracture | 2.6% | 1/38 |
| Loss of ability to walk in first decade | 2.6% | 1/38 |
| Lower limb hypertonia | 2.6% | 1/38 |
| obsolete Poor coordination | 2.6% | 1/38 |
| Progressive truncal ataxia | 2.6% | 1/38 |
| Stereotypical hand wringing | 2.6% | 1/38 |
| Truncal ataxia | 2.6% | 1/38 |
| Unsteady gait | 2.6% | 1/38 |
| Behavioral problems | 75.0% | 15/20 |
| Autistic behavior | 35.0% | 7/20 |
| Motor stereotypy | 30.0% | 6/20 |
| Reduced social responsiveness | 25.0% | 5/20 |
| Reduced eye contact | 25.0% | 5/20 |
| obsolete Impaired social interactions | 20.0% | 4/20 |
| Hyperactivity | 10.0% | 2/20 |
| Recurrent hand flapping | 10.0% | 2/20 |
| Stereotypical hand wringing | 10.0% | 2/20 |
| Abnormal emotional state | 5.0% | 1/20 |
| Aggressive behavior | 5.0% | 1/20 |
| Drooling | 5.0% | 1/20 |
| No social interaction | 5.0% | 1/20 |
| Brain abnormality | 77.8% | 21/27 |
| Abnormal periventricular white matter morphology | 18.5% | 5/27 |
| Cerebral cortical atrophy | 11.1% | 3/27 |
| Cerebral atrophy | 11.1% | 3/27 |
| Delayed myelination | 11.1% | 3/27 |
| EEG abnormality | 11.1% | 3/27 |
| Focal white matter lesions | 11.1% | 3/27 |
| Partial agenesis of the corpus callosum | 11.1% | 3/27 |
| Cerebellar vermis atrophy | 7.4% | 2/27 |
| Dilated fourth ventricle | 7.4% | 2/27 |
| Dilated third ventricle | 7.4% | 2/27 |
| EEG with generalized epileptiform discharges | 7.4% | 2/27 |
| EEG with focal epileptiform discharges | 7.4% | 2/27 |
| EEG with generalized sharp slow waves | 7.4% | 2/27 |
| Lateral ventricle dilatation | 7.4% | 2/27 |
| Abnormal dentate nucleus morphology | 3.7% | 1/27 |
| Aplasia/Hypoplasia of the cerebellar vermis | 3.7% | 1/27 |
| Cerebral hypomyelination | 3.7% | 1/27 |
| CNS hypomyelination | 3.7% | 1/27 |
| Dilation of Virchow-Robin spaces | 3.7% | 1/27 |
| Dysplastic corpus callosum | 3.7% | 1/27 |
| Enlarged cisterna magna | 3.7% | 1/27 |
| Enlarged fetal cisterna magna | 3.7% | 1/27 |
| Generalized cerebral atrophy/hypoplasia | 3.7% | 1/27 |
| Hypointensity of cerebral white matter on MRI | 3.7% | 1/27 |
| Hypoplasia of the corpus callosum | 3.7% | 1/27 |
| Leukodystrophy | 3.7% | 1/27 |
| Morphological central nervous system abnormality | 3.7% | 1/27 |
| Periventricular leukomalacia | 3.7% | 1/27 |
| Facial abnormalities | ||
| Abnormality of the ear | 77.8% | 14/18 |
| Macrotia | 55.6% | 10/18 |
| Low-set ears | 16.7% | 3/18 |
| Abnormal earlobe morphology | 11.1% | 2/18 |
| Large earlobe | 11.1% | 2/18 |
| Abnormality of the eye | 81.3% | 13/16 |
| Downslanted palpebral fissures | 37.5% | 6/16 |
| Deeply set eye | 18.8% | 3/16 |
| Epicanthus | 12.5% | 2/16 |
| Hypertelorism | 12.5% | 2/16 |
| Abnormal eyebrow morphology | 6.3% | 1/16 |
| obsolete Sparse and thin eyebrow | 6.3% | 1/16 |
| Short palpebral fissure | 6.3% | 1/16 |
| Abnormality of the nose | 80.0% | 20/25 |
| Narrow nose | 32.0% | 8/25 |
| Wide nasal base | 16.0% | 4/25 |
| Anteverted nares | 12.0% | 3/25 |
| Wide nose | 12.0% | 3/25 |
| Depressed nasal bridge | 8.0% | 2/25 |
| Long nose | 8.0% | 2/25 |
| Prominent nasal bridge | 8.0% | 2/25 |
| Wide nasal bridge | 8.0% | 2/25 |
| Narrow nasal tip | 4.0% | 1/25 |
| Short nose | 4.0% | 1/25 |
| Underdeveloped nasal alae | 4.0% | 1/25 |
| Abnormality of the mouth | 73.3% | 11/15 |
| Drooling | 20.0% | 3/15 |
| Narrow mouth | 20.0% | 3/15 |
| Open mouth | 20.0% | 3/15 |
| Everted lower lip vermilion | 13.3% | 2/15 |
| Malar flattening | 13.3% | 2/15 |
| Microdontia | 13.3% | 2/15 |
| Widely spaced teeth | 13.3% | 2/15 |
| High palate | 6.7% | 1/15 |
| Long philtrum | 6.7% | 1/15 |
| Micrognathia | 6.7% | 1/15 |
| Protruding tongue | 6.7% | 1/15 |
| Short philtrum | 6.7% | 1/15 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 3/6 |
| Abnormal eye physiology | 16.7% | 1/6 |
| Astigmatism | 16.7% | 1/6 |
| Exotropia | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 43.8% | 7/16 |
| Congestive heart failure | 18.8% | 3/16 |
| Bicuspid aortic valve | 6.3% | 1/16 |
| Bradycardia | 6.3% | 1/16 |
| Myocarditis | 6.3% | 1/16 |
| Patent ductus arteriosus | 6.3% | 1/16 |
| Patent foramen ovale | 6.3% | 1/16 |
| Right ventricular failure | 6.3% | 1/16 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 2/2 |
| Recurrent respiratory infections | 100.0% | 2/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 97.0% | 32/33 |
| Constipation | 57.6% | 19/33 |
| Gastroesophageal reflux | 24.2% | 8/33 |
| Feeding difficulties | 21.2% | 7/33 |
| Feeding difficulties in infancy | 12.1% | 4/33 |
| Chronic constipation | 9.1% | 3/33 |
| Dysphagia | 9.1% | 3/33 |
| Abnormal large intestine morphology | 6.1% | 2/33 |
| Gastrostomy tube feeding in infancy | 6.1% | 2/33 |
| Abdominal distention | 3.0% | 1/33 |
| Abnormality of the gastrointestinal tract | 3.0% | 1/33 |
| Abnormal small intestine morphology | 3.0% | 1/33 |
| Abnormal mesentery morphology | 3.0% | 1/33 |
| Bowel incontinence | 3.0% | 1/33 |
| Chronic diarrhea | 3.0% | 1/33 |
| Intestinal pseudo-obstruction | 3.0% | 1/33 |
| Intestinal malrotation | 3.0% | 1/33 |
| Intestinal obstruction | 3.0% | 1/33 |
| Neonatal intestinal obstruction | 3.0% | 1/33 |
| Urogenital | ||
| Abnormality of the urogenital system | 52.9% | 9/17 |
| Dilatation of the bladder | 23.5% | 4/17 |
| Dilatation of the renal pelvis | 11.8% | 2/17 |
| Urinary incontinence | 11.8% | 2/17 |
| Abnormality of the bladder | 5.9% | 1/17 |
| Abnormality of the genital system | 5.9% | 1/17 |
| Abnormality of the ureter | 5.9% | 1/17 |
| Bilateral cryptorchidism | 5.9% | 1/17 |
| Fetal megacystis | 5.9% | 1/17 |
| obsolete Small scrotum | 5.9% | 1/17 |
| Unilateral cryptorchidism | 5.9% | 1/17 |
| Urinary retention | 5.9% | 1/17 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 12/16 |
| Abnormal digit morphology | 12.5% | 2/16 |
| Clinodactyly | 12.5% | 2/16 |
| Long fingers | 12.5% | 2/16 |
| Recurrent long bone fractures | 12.5% | 2/16 |
| Slender toe | 12.5% | 2/16 |
| Slender finger | 12.5% | 2/16 |
| Arachnodactyly | 6.3% | 1/16 |
| Broad foot | 6.3% | 1/16 |
| Hip subluxation | 6.3% | 1/16 |
| Joint hypermobility | 6.3% | 1/16 |
| Long foot | 6.3% | 1/16 |
| obsolete Joint laxity | 6.3% | 1/16 |
| Plagiocephaly | 6.3% | 1/16 |
| Scoliosis | 6.3% | 1/16 |
| Short foot | 6.3% | 1/16 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 42.9% | 3/7 |
| Thin skin | 28.6% | 2/7 |
| Clubbing of fingers | 14.3% | 1/7 |
| Pallor | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 37.5% | 3/8 |
| Hypothyroidism | 25.0% | 2/8 |
| Pituitary hypothyroidism | 12.5% | 1/8 |
| Abnormality of the metabolic system | 16.7% | 2/12 |
| Fever | 8.3% | 1/12 |
| Increased circulating lactate concentration | 8.3% | 1/12 |
| Abnormality of the immune system | 82.8% | 24/29 |
| Recurrent respiratory infections | 44.8% | 13/29 |
| Pneumonia | 17.2% | 5/29 |
| Recurrent pneumonia | 17.2% | 5/29 |
| Respiratory tract infection | 17.2% | 5/29 |
| Allergic rhinitis | 6.9% | 2/29 |
| Unusual CNS infection | 6.9% | 2/29 |
| Meningitis | 3.4% | 1/29 |
| Recurrent bronchopulmonary infections | 3.4% | 1/29 |
| Recurrent aspiration pneumonia | 3.4% | 1/29 |
| Recurrent infections | 3.4% | 1/29 |
| Sepsis | 3.4% | 1/29 |