RMND1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 12/32 |
| Female | 62.5% | 20/32 |
| Indifferent | 0% | 0/32 |
| Unknown | 0% | 0/32 |
| General | ||
| Birth Length abnormalities | 0% | 0/32 |
| Birth Weight abnormalities | 6.3% | 2/32 |
| < P3 : Small for gestational age | 6.3% | 2/32 |
| Birth Head circumference abnormalities | 0% | 0/32 |
| Current Height abnormalities | 3.1% | 1/32 |
| < P3 : Short stature | 3.1% | 1/32 |
| Current Weight abnormalities | 6.3% | 2/32 |
| < P3 : Decreased body weight | 6.3% | 2/32 |
| Current Head circumference abnormalities | 9.4% | 3/32 |
| < P3 : Microcephaly | 9.4% | 3/32 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 30/30 |
| Global developmental delay | 73.3% | 22/30 |
| Generalized hypotonia | 50.0% | 15/30 |
| Seizure | 33.3% | 10/30 |
| obsolete Central hypotonia | 20.0% | 6/30 |
| Floppy infant | 10.0% | 3/30 |
| Hyperreflexia | 10.0% | 3/30 |
| Areflexia | 6.7% | 2/30 |
| EEG with spike-wave complexes | 6.7% | 2/30 |
| Hyporeflexia | 6.7% | 2/30 |
| Tongue fasciculations | 6.7% | 2/30 |
| Axial muscle weakness | 3.3% | 1/30 |
| Dysphagia | 3.3% | 1/30 |
| Epilepsia partialis continua | 3.3% | 1/30 |
| Febrile seizure (within the age range of 3 months to 6 years) | 3.3% | 1/30 |
| Hemiplegia | 3.3% | 1/30 |
| Hypotonia | 3.3% | 1/30 |
| Lethargy | 3.3% | 1/30 |
| Lower limb spasticity | 3.3% | 1/30 |
| Lower limb hyperreflexia | 3.3% | 1/30 |
| Myoclonus | 3.3% | 1/30 |
| Myopathic facies | 3.3% | 1/30 |
| Severe muscular hypotonia | 3.3% | 1/30 |
| Spastic diplegia | 3.3% | 1/30 |
| Spasticity | 3.3% | 1/30 |
| Status epilepticus | 3.3% | 1/30 |
| Torticollis | 3.3% | 1/30 |
| Behavioral problems | 100.0% | 2/2 |
| Feeding difficulties | 50.0% | 1/2 |
| Sleep disturbance | 50.0% | 1/2 |
| Brain abnormality | 89.5% | 17/19 |
| Microcephaly | 57.9% | 11/19 |
| Delayed myelination | 26.3% | 5/19 |
| Abnormal periventricular white matter morphology | 10.5% | 2/19 |
| Abnormal cerebral white matter morphology | 10.5% | 2/19 |
| Abnormal CNS myelination | 5.3% | 1/19 |
| Aplasia/Hypoplasia of the corpus callosum | 5.3% | 1/19 |
| Basal ganglia calcification | 5.3% | 1/19 |
| Diffuse leukoencephalopathy | 5.3% | 1/19 |
| Encephalopathy | 5.3% | 1/19 |
| Global brain atrophy | 5.3% | 1/19 |
| Leukoencephalopathy | 5.3% | 1/19 |
| Facial abnormalities | ||
| Abnormality of the mouth | 100.0% | 1/1 |
| Tented upper lip vermilion | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 24/24 |
| Sensorineural hearing impairment | 95.8% | 23/24 |
| Moderate sensorineural hearing impairment | 4.2% | 1/24 |
| Abnormal vision | 50.0% | 3/6 |
| Abnormal eye physiology | 16.7% | 1/6 |
| Myopia | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 66.7% | 10/15 |
| Heart block | 20.0% | 3/15 |
| Hypertrophic cardiomyopathy | 20.0% | 3/15 |
| Arrhythmia | 13.3% | 2/15 |
| Bradycardia | 6.7% | 1/15 |
| Cardiomyopathy | 6.7% | 1/15 |
| Cardiomegaly | 6.7% | 1/15 |
| obsolete Restrictive heart failure | 6.7% | 1/15 |
| Patent ductus arteriosus | 6.7% | 1/15 |
| Pulmonary | ||
| Abnormality of the lungs | 87.5% | 7/8 |
| Respiratory failure | 37.5% | 3/8 |
| Pneumonia | 25.0% | 2/8 |
| Pulmonary arterial hypertension | 25.0% | 2/8 |
| Aspiration pneumonia | 12.5% | 1/8 |
| Pneumothorax | 12.5% | 1/8 |
| Respiratory tract infection | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 90.9% | 10/11 |
| Gastrostomy tube feeding in infancy | 45.5% | 5/11 |
| Nasogastric tube feeding in infancy | 36.4% | 4/11 |
| Diarrhea | 9.1% | 1/11 |
| Dysphagia | 9.1% | 1/11 |
| Feeding difficulties | 9.1% | 1/11 |
| Gastroesophageal reflux | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 94.4% | 17/18 |
| Renal insufficiency | 50.0% | 9/18 |
| Proteinuria | 11.1% | 2/18 |
| Abnormality of urine homeostasis | 5.6% | 1/18 |
| Chronic kidney disease | 5.6% | 1/18 |
| Cystic renal dysplasia | 5.6% | 1/18 |
| Multicystic kidney dysplasia | 5.6% | 1/18 |
| Nephritis | 5.6% | 1/18 |
| Premature ovarian insufficiency | 5.6% | 1/18 |
| Renal hypoplasia | 5.6% | 1/18 |
| Renal tubular epithelial necrosis | 5.6% | 1/18 |
| Renal tubular dysfunction | 5.6% | 1/18 |
| Reversible renal failure | 5.6% | 1/18 |
| Skeleton | ||
| Skeletal abnormalities | 85.7% | 6/7 |
| Equinus calcaneus | 42.9% | 3/7 |
| Bilateral talipes equinovarus | 14.3% | 1/7 |
| Hip dysplasia | 14.3% | 1/7 |
| Hyperextensibility of the knee | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Pili torti | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 100.0% | 25/25 |
| Increased circulating lactate concentration | 76.0% | 19/25 |
| Lactic acidosis | 20.0% | 5/25 |
| Metabolic acidosis | 20.0% | 5/25 |
| Abnormal circulating creatine kinase concentration | 4.0% | 1/25 |
| Elevated circulating creatine kinase concentration | 4.0% | 1/25 |
| Fatal liver failure in infancy | 4.0% | 1/25 |
| Hyperkalemia | 4.0% | 1/25 |
| Hyperechogenic pancreas | 4.0% | 1/25 |
| Hypomagnesemia | 4.0% | 1/25 |
| Hyponatremia | 4.0% | 1/25 |
| Increased CSF lactate | 4.0% | 1/25 |
| Abnormality of the immune system | 100.0% | 1/1 |
| Enterocolitis | 100.0% | 1/1 |