MECP2 duplication
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 97.3% | 36/37 |
| Female | 2.7% | 1/37 |
| Indifferent | 0% | 0/37 |
| Unknown | 0% | 0/37 |
| General | ||
| Birth Length abnormalities | 5.0% | 1/20 |
| < P3 : Birth length less than 3rd percentile | 5.0% | 1/20 |
| Birth Weight abnormalities | 12.5% | 3/24 |
| < P3 : Small for gestational age | 12.5% | 3/24 |
| Birth Head circumference abnormalities | 0% | 0/22 |
| Current Height abnormalities | 50.0% | 10/20 |
| < P3 : Short stature | 45.0% | 9/20 |
| > P98 : Tall stature | 5.0% | 1/20 |
| Current Weight abnormalities | 36.8% | 7/19 |
| < P3 : Decreased body weight | 36.8% | 7/19 |
| Current Head circumference abnormalities | 30.8% | 8/26 |
| < P3 : Microcephaly | 23.1% | 6/26 |
| > P98 : Macrocephaly | 7.7% | 2/26 |
| Neurology | ||
| Neurological abnormalities | 94.4% | 34/36 |
| Generalized hypotonia | 63.9% | 23/36 |
| Seizures | 22.2% | 8/36 |
| Generalized tonic-clonic seizures | 19.4% | 7/36 |
| Ataxia | 13.9% | 5/36 |
| Gait ataxia | 13.9% | 5/36 |
| Generalized myoclonic seizures | 13.9% | 5/36 |
| Atonic seizures | 11.1% | 4/36 |
| Infantile axial hypotonia | 8.3% | 3/36 |
| Lower limb spasticity | 8.3% | 3/36 |
| Spasticity | 8.3% | 3/36 |
| Abnormal pyramidal signs | 5.6% | 2/36 |
| Central hypotonia | 5.6% | 2/36 |
| Dystonia | 5.6% | 2/36 |
| Focal myoclonic seizures | 5.6% | 2/36 |
| Limb hypertonia | 5.6% | 2/36 |
| Multifocal epileptiform discharges | 5.6% | 2/36 |
| Myoclonus | 5.6% | 2/36 |
| Neonatal hypotonia | 5.6% | 2/36 |
| Progressive spasticity | 5.6% | 2/36 |
| Abdominal distention | 2.8% | 1/36 |
| Absence seizures | 2.8% | 1/36 |
| Babinski sign | 2.8% | 1/36 |
| Cerebral palsy | 2.8% | 1/36 |
| Facial hypotonia | 2.8% | 1/36 |
| Focal seizures with impairment of consciousness or awareness | 2.8% | 1/36 |
| Generalized tonic seizures | 2.8% | 1/36 |
| Generalized seizures | 2.8% | 1/36 |
| Hip contracture | 2.8% | 1/36 |
| Hyperactive deep tendon reflexes | 2.8% | 1/36 |
| Knee flexion contracture | 2.8% | 1/36 |
| Loss of ability to walk in first decade | 2.8% | 1/36 |
| Lower limb hypertonia | 2.8% | 1/36 |
| Poor coordination | 2.8% | 1/36 |
| Progressive truncal ataxia | 2.8% | 1/36 |
| Stereotypical hand wringing | 2.8% | 1/36 |
| Truncal ataxia | 2.8% | 1/36 |
| Unsteady gait | 2.8% | 1/36 |
| Behavioral problems | 78.9% | 15/19 |
| Autistic behavior | 36.8% | 7/19 |
| Stereotypic behavior | 31.6% | 6/19 |
| Impaired social reciprocity | 26.3% | 5/19 |
| Poor eye contact | 26.3% | 5/19 |
| Impaired social interactions | 21.1% | 4/19 |
| Hyperactivity | 10.5% | 2/19 |
| Recurrent hand flapping | 10.5% | 2/19 |
| Stereotypical hand wringing | 10.5% | 2/19 |
| Abnormal emotion/affect behavior | 5.3% | 1/19 |
| Aggressive behavior | 5.3% | 1/19 |
| Drooling | 5.3% | 1/19 |
| No social interaction | 5.3% | 1/19 |
| Brain abnormality | 80.0% | 20/25 |
| Abnormality of the periventricular white matter | 20.0% | 5/25 |
| Cerebral atrophy | 12.0% | 3/25 |
| Cerebral cortical atrophy | 12.0% | 3/25 |
| EEG abnormality | 12.0% | 3/25 |
| Focal white matter lesions | 12.0% | 3/25 |
| Partial agenesis of the corpus callosum | 12.0% | 3/25 |
| Cerebellar vermis atrophy | 8.0% | 2/25 |
| Delayed myelination | 8.0% | 2/25 |
| Dilation of lateral ventricles | 8.0% | 2/25 |
| Dilated fourth ventricle | 8.0% | 2/25 |
| Dilated third ventricle | 8.0% | 2/25 |
| EEG with generalized sharp slow waves | 8.0% | 2/25 |
| EEG with generalized epileptiform discharges | 8.0% | 2/25 |
| EEG with focal epileptiform discharges | 8.0% | 2/25 |
| Abnormality of the dentate nucleus | 4.0% | 1/25 |
| Aplasia/Hypoplasia of the cerebellar vermis | 4.0% | 1/25 |
| Cerebral hypomyelination | 4.0% | 1/25 |
| CNS hypomyelination | 4.0% | 1/25 |
| Dysplastic corpus callosum | 4.0% | 1/25 |
| Enlarged cisterna magna | 4.0% | 1/25 |
| Enlarged fetal cisterna magna | 4.0% | 1/25 |
| Generalized cerebral atrophy/hypoplasia | 4.0% | 1/25 |
| Hypointensity of cerebral white matter on MRI | 4.0% | 1/25 |
| Hypoplasia of the corpus callosum | 4.0% | 1/25 |
| Leukodystrophy | 4.0% | 1/25 |
| Morphological abnormality of the central nervous system | 4.0% | 1/25 |
| Perivascular spaces | 4.0% | 1/25 |
| Periventricular leukomalacia | 4.0% | 1/25 |
| Facial abnormalities | ||
| Abnormality of the ear | 75.0% | 12/16 |
| Macrotia | 56.3% | 9/16 |
| Abnormality of earlobe | 12.5% | 2/16 |
| Large earlobe | 12.5% | 2/16 |
| Low-set ears | 12.5% | 2/16 |
| Abnormality of the eye | 78.6% | 11/14 |
| Downslanted palpebral fissures | 35.7% | 5/14 |
| Deeply set eye | 14.3% | 2/14 |
| Epicanthus | 14.3% | 2/14 |
| Hypertelorism | 14.3% | 2/14 |
| Abnormality of the eyebrow | 7.1% | 1/14 |
| Short palpebral fissure | 7.1% | 1/14 |
| Sparse eyebrow | 7.1% | 1/14 |
| Abnormality of the nose | 82.6% | 19/23 |
| Narrow nose | 34.8% | 8/23 |
| Wide nasal base | 17.4% | 4/23 |
| Wide nose | 13.0% | 3/23 |
| Anteverted nares | 8.7% | 2/23 |
| Depressed nasal bridge | 8.7% | 2/23 |
| Long nose | 8.7% | 2/23 |
| Prominent nasal bridge | 8.7% | 2/23 |
| Wide nasal bridge | 8.7% | 2/23 |
| Narrow nasal tip | 4.3% | 1/23 |
| Short nose | 4.3% | 1/23 |
| Underdeveloped nasal alae | 4.3% | 1/23 |
| Abnormality of the mouth | 69.2% | 9/13 |
| Narrow mouth | 23.1% | 3/13 |
| Drooling | 15.4% | 2/13 |
| Everted lower lip vermilion | 15.4% | 2/13 |
| Malar flattening | 15.4% | 2/13 |
| Microdontia | 15.4% | 2/13 |
| Open mouth | 15.4% | 2/13 |
| Widely spaced teeth | 15.4% | 2/13 |
| High palate | 7.7% | 1/13 |
| Short philtrum | 7.7% | 1/13 |
| Visual and hearing impairments | ||
| Abnormal vision | 75.0% | 3/4 |
| Abnormal eye physiology | 25.0% | 1/4 |
| Astigmatism | 25.0% | 1/4 |
| Exotropia | 25.0% | 1/4 |
| Strabismus | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 50.0% | 7/14 |
| Congestive heart failure | 21.4% | 3/14 |
| Bicuspid aortic valve | 7.1% | 1/14 |
| Bradycardia | 7.1% | 1/14 |
| Myocarditis | 7.1% | 1/14 |
| Patent foramen ovale | 7.1% | 1/14 |
| Patent ductus arteriosus | 7.1% | 1/14 |
| Right ventricular failure | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 96.8% | 30/31 |
| Constipation | 54.8% | 17/31 |
| Gastroesophageal reflux | 25.8% | 8/31 |
| Feeding difficulties | 22.6% | 7/31 |
| Feeding difficulties in infancy | 12.9% | 4/31 |
| Chronic constipation | 9.7% | 3/31 |
| Dysphagia | 9.7% | 3/31 |
| Abnormality of the large intestine | 6.5% | 2/31 |
| Gastrostomy tube feeding in infancy | 6.5% | 2/31 |
| Abdominal distention | 3.2% | 1/31 |
| Abnormality of the gastrointestinal tract | 3.2% | 1/31 |
| Abnormality of the mesentery | 3.2% | 1/31 |
| Abnormality of the small intestine | 3.2% | 1/31 |
| Bowel incontinence | 3.2% | 1/31 |
| Chronic diarrhea | 3.2% | 1/31 |
| Intestinal malrotation | 3.2% | 1/31 |
| Intestinal pseudo-obstruction | 3.2% | 1/31 |
| Intestinal obstruction | 3.2% | 1/31 |
| Neonatal intestinal obstruction | 3.2% | 1/31 |
| Urogenital | ||
| Abnormality of the urogenital system | 53.3% | 8/15 |
| Dilatation of the bladder | 26.7% | 4/15 |
| Dilatation of the renal pelvis | 13.3% | 2/15 |
| Urinary incontinence | 13.3% | 2/15 |
| Abnormality of the bladder | 6.7% | 1/15 |
| Abnormality of the genital system | 6.7% | 1/15 |
| Abnormality of the ureter | 6.7% | 1/15 |
| Fetal megacystis | 6.7% | 1/15 |
| Unilateral cryptorchidism | 6.7% | 1/15 |
| Urinary retention | 6.7% | 1/15 |
| Skeleton | ||
| Skeletal abnormalities | 78.6% | 11/14 |
| Abnormality of digit | 14.3% | 2/14 |
| Clinodactyly | 14.3% | 2/14 |
| Fractures of the long bones | 14.3% | 2/14 |
| Slender finger | 14.3% | 2/14 |
| Slender toe | 14.3% | 2/14 |
| Arachnodactyly | 7.1% | 1/14 |
| Broad foot | 7.1% | 1/14 |
| Hip Subluxation | 7.1% | 1/14 |
| Joint laxity | 7.1% | 1/14 |
| Joint hypermobility | 7.1% | 1/14 |
| Long fingers | 7.1% | 1/14 |
| Long foot | 7.1% | 1/14 |
| Plagiocephaly | 7.1% | 1/14 |
| Scoliosis | 7.1% | 1/14 |
| Short foot | 7.1% | 1/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 40.0% | 2/5 |
| Thin skin | 40.0% | 2/5 |
| Pallor | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 3/6 |
| Hypothyroidism | 33.3% | 2/6 |
| Pituitary hypothyroidism | 16.7% | 1/6 |
| Abnormality of the metabolic system | 20.0% | 2/10 |
| Fever | 10.0% | 1/10 |
| Increased serum lactate | 10.0% | 1/10 |
| Abnormality of the immune system | 88.9% | 24/27 |
| Recurrent respiratory infections | 48.1% | 13/27 |
| Pneumonia | 18.5% | 5/27 |
| Recurrent pneumonia | 18.5% | 5/27 |
| Respiratory tract infection | 18.5% | 5/27 |
| Allergic rhinitis | 7.4% | 2/27 |
| CNS infection | 7.4% | 2/27 |
| Meningitis | 3.7% | 1/27 |
| Recurrent infections | 3.7% | 1/27 |
| Recurrent aspiration pneumonia | 3.7% | 1/27 |
| Recurrent bronchopulmonary infections | 3.7% | 1/27 |
| Sepsis | 3.7% | 1/27 |