C2orf69
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 71.4% | 15/21 |
| Female | 28.6% | 6/21 |
| Indifferent | 0% | 0/21 |
| Unknown | 0% | 0/21 |
| General | ||
| Birth Length abnormalities | 0% | 0/21 |
| Birth Weight abnormalities | 0% | 0/21 |
| Birth Head circumference abnormalities | 0% | 0/21 |
| Current Height abnormalities | 61.9% | 13/21 |
| < P3 : Short stature | 61.9% | 13/21 |
| Current Weight abnormalities | 38.1% | 8/21 |
| < P3 : Decreased body weight | 38.1% | 8/21 |
| Current Head circumference abnormalities | 71.4% | 15/21 |
| < P3 : Microcephaly | 71.4% | 15/21 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 17/17 |
| Seizure | 47.1% | 8/17 |
| Focal-onset seizure | 17.6% | 3/17 |
| Neurodevelopmental delay | 17.6% | 3/17 |
| Babinski sign | 11.8% | 2/17 |
| Cerebral palsy | 11.8% | 2/17 |
| EEG with focal epileptiform discharges | 11.8% | 2/17 |
| Absent smooth pursuit | 5.9% | 1/17 |
| Ataxia | 5.9% | 1/17 |
| Bilateral tonic-clonic seizure | 5.9% | 1/17 |
| Brisk reflexes | 5.9% | 1/17 |
| Delayed gross motor development | 5.9% | 1/17 |
| Developmental regression | 5.9% | 1/17 |
| Difficulty standing | 5.9% | 1/17 |
| Drooling | 5.9% | 1/17 |
| Dysphagia | 5.9% | 1/17 |
| Febrile seizure (within the age range of 3 months to 6 years) | 5.9% | 1/17 |
| Focal myoclonic seizure | 5.9% | 1/17 |
| Generalized non-motor (absence) seizure | 5.9% | 1/17 |
| Generalized | 5.9% | 1/17 |
| Generalized tonic seizure | 5.9% | 1/17 |
| Hypertonia | 5.9% | 1/17 |
| Hypotonia | 5.9% | 1/17 |
| Impaired mastication | 5.9% | 1/17 |
| Myoclonus | 5.9% | 1/17 |
| Reduced eye contact | 5.9% | 1/17 |
| Somatic sensory dysfunction | 5.9% | 1/17 |
| Spastic tetraparesis | 5.9% | 1/17 |
| Spasticity | 5.9% | 1/17 |
| Status epilepticus | 5.9% | 1/17 |
| Behavioral problems | 100.0% | 2/2 |
| Motor stereotypy | 100.0% | 2/2 |
| Abnormal social behavior | 50.0% | 1/2 |
| Absent speech | 50.0% | 1/2 |
| Autism | 50.0% | 1/2 |
| Insomnia | 50.0% | 1/2 |
| Reduced eye contact | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 21/21 |
| Abnormal corpus callosum morphology | 38.1% | 8/21 |
| Cerebral atrophy | 38.1% | 8/21 |
| CNS hypomyelination | 38.1% | 8/21 |
| Secondary microcephaly | 38.1% | 8/21 |
| Dandy-Walker malformation | 28.6% | 6/21 |
| Dysplastic corpus callosum | 28.6% | 6/21 |
| Frontotemporal cerebral atrophy | 28.6% | 6/21 |
| Cerebellar atrophy | 23.8% | 5/21 |
| Cerebral cortical atrophy | 23.8% | 5/21 |
| Basilar impression | 14.3% | 3/21 |
| Cerebral hypomyelination | 14.3% | 3/21 |
| Microcephaly | 14.3% | 3/21 |
| Cerebellar vermis hypoplasia | 9.5% | 2/21 |
| Cerebellar hypoplasia | 9.5% | 2/21 |
| Cerebellar vermis atrophy | 9.5% | 2/21 |
| Hypoplasia of the pons | 9.5% | 2/21 |
| Optic nerve hypoplasia | 9.5% | 2/21 |
| Abnormality of metabolism/homeostasis | 4.8% | 1/21 |
| Abnormal cerebral white matter morphology | 4.8% | 1/21 |
| Bilateral multifocal epileptiform discharges | 4.8% | 1/21 |
| Corpus callosum atrophy | 4.8% | 1/21 |
| Delayed myelination | 4.8% | 1/21 |
| Diffuse cerebellar atrophy | 4.8% | 1/21 |
| Diffuse cerebral atrophy | 4.8% | 1/21 |
| EEG with generalized epileptiform discharges | 4.8% | 1/21 |
| EEG with abnormally slow frequencies | 4.8% | 1/21 |
| Elevated brain lactate level by MRS | 4.8% | 1/21 |
| Frontal cortical atrophy | 4.8% | 1/21 |
| Hypoplasia of the corpus callosum | 4.8% | 1/21 |
| Hypoplasia of the optic tract | 4.8% | 1/21 |
| Lateral ventricle dilatation | 4.8% | 1/21 |
| Porencephalic cyst | 4.8% | 1/21 |
| Small cerebral cortex | 4.8% | 1/21 |
| Subcortical cerebral atrophy | 4.8% | 1/21 |
| Ventriculomegaly | 4.8% | 1/21 |
| Facial abnormalities | ||
| Abnormality of the eye | 42.9% | 3/7 |
| Hypertelorism | 28.6% | 2/7 |
| Underdeveloped supraorbital ridges | 14.3% | 1/7 |
| Abnormality of the nose | 28.6% | 2/7 |
| Anteverted nares | 14.3% | 1/7 |
| Wide nasal bridge | 14.3% | 1/7 |
| Abnormality of the mouth | 28.6% | 2/7 |
| Macroglossia | 14.3% | 1/7 |
| Tented upper lip vermilion | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 82.4% | 14/17 |
| Severely reduced visual acuity | 29.4% | 5/17 |
| Exotropia | 17.6% | 3/17 |
| Optic nerve hypoplasia | 17.6% | 3/17 |
| Optic atrophy | 17.6% | 3/17 |
| Strabismus | 17.6% | 3/17 |
| Abnormality of eye movement | 11.8% | 2/17 |
| Cerebral visual impairment | 11.8% | 2/17 |
| Monocular strabismus | 5.9% | 1/17 |
| Myopia | 5.9% | 1/17 |
| Visual impairment | 5.9% | 1/17 |
| Heart | ||
| Abnormality of the heart | 35.7% | 5/14 |
| Abnormal left ventricular function | 7.1% | 1/14 |
| Abnormal atrial septum morphology | 7.1% | 1/14 |
| Biventricular hypertrophy | 7.1% | 1/14 |
| Cardiomyopathy | 7.1% | 1/14 |
| Cardiac arrest | 7.1% | 1/14 |
| Dilated cardiomyopathy | 7.1% | 1/14 |
| Pericardial effusion | 7.1% | 1/14 |
| Vacuolated lymphocytes | 7.1% | 1/14 |
| Ventricular escape rhythm | 7.1% | 1/14 |
| Pulmonary | ||
| Abnormality of the lungs | 55.6% | 5/9 |
| Respiratory failure requiring assisted ventilation | 44.4% | 4/9 |
| Pneumonia | 22.2% | 2/9 |
| Neonatal respiratory distress | 11.1% | 1/9 |
| Respiratory distress | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 86.7% | 13/15 |
| Elevated circulating hepatic transaminase concentration | 53.3% | 8/15 |
| Gastrostomy tube feeding in infancy | 33.3% | 5/15 |
| Hepatomegaly | 33.3% | 5/15 |
| Abnormality of metabolism/homeostasis | 20.0% | 3/15 |
| Abnormal circulating enzyme concentration or activity | 6.7% | 1/15 |
| Cirrhosis | 6.7% | 1/15 |
| Decreased liver function | 6.7% | 1/15 |
| Episodic vomiting | 6.7% | 1/15 |
| Feeding difficulties | 6.7% | 1/15 |
| Gastroparesis | 6.7% | 1/15 |
| Hyperbilirubinemia | 6.7% | 1/15 |
| Prolonged neonatal jaundice | 6.7% | 1/15 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 6/8 |
| Osteopenia | 50.0% | 4/8 |
| Hip dislocation | 25.0% | 2/8 |
| Abnormal skeletal morphology | 12.5% | 1/8 |
| Abnormal femoral head morphology | 12.5% | 1/8 |
| Elbow flexion contracture | 12.5% | 1/8 |
| Flexion contracture of toe | 12.5% | 1/8 |
| Knee flexion contracture | 12.5% | 1/8 |
| Limited elbow movement | 12.5% | 1/8 |
| Limitation of joint mobility | 12.5% | 1/8 |
| Pathologic fracture | 12.5% | 1/8 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 60.0% | 6/10 |
| Brittle hair | 40.0% | 4/10 |
| Fair hair | 40.0% | 4/10 |
| Dry hair | 30.0% | 3/10 |
| Few cafe-au-lait spots | 10.0% | 1/10 |
| Fine hair | 10.0% | 1/10 |
| Generalized abnormality of skin | 10.0% | 1/10 |
| Hypopigmentation of hair | 10.0% | 1/10 |
| Sparse hair | 10.0% | 1/10 |
| Woolly hair | 10.0% | 1/10 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 33.3% | 1/3 |
| Hyperthyroidism | 33.3% | 1/3 |
| Abnormality of the metabolic system | 66.7% | 8/12 |
| Abnormality of metabolism/homeostasis | 91.7% | 11/12 |
| Increased circulating lactate concentration | 16.7% | 2/12 |
| Abnormality of the mitochondrion | 8.3% | 1/12 |
| Abnormal muscle glycogen content | 8.3% | 1/12 |
| Abnormal circulating lactate dehydrogenase concentration | 8.3% | 1/12 |
| Abnormality of mitochondrial metabolism | 8.3% | 1/12 |
| Decreased activity of mitochondrial complex I | 8.3% | 1/12 |
| Abnormality of the immune system | 88.9% | 16/18 |
| Elevated circulating C-reactive protein concentration | 50.0% | 9/18 |
| Recurrent fever | 44.4% | 8/18 |
| Arthritis | 33.3% | 6/18 |
| Hypochromic microcytic anemia | 16.7% | 3/18 |
| Pneumonia | 16.7% | 3/18 |
| Recurrent respiratory infections | 16.7% | 3/18 |
| Septic arthritis | 16.7% | 3/18 |
| Abnormal hip joint morphology | 11.1% | 2/18 |
| Osteomyelitis | 11.1% | 2/18 |
| Pleural effusion | 11.1% | 2/18 |
| Recurrent infections | 11.1% | 2/18 |
| Thrombocytosis | 11.1% | 2/18 |
| Abnormal circulating protein concentration | 5.6% | 1/18 |
| Aspiration pneumonia | 5.6% | 1/18 |
| Congenital hypoplastic anemia | 5.6% | 1/18 |
| Decreased circulating IgA concentration | 5.6% | 1/18 |
| Fever | 5.6% | 1/18 |
| Herpes simplex encephalitis | 5.6% | 1/18 |
| Increased total monocyte count | 5.6% | 1/18 |
| Increased inflammatory response | 5.6% | 1/18 |
| Juvenile aseptic necrosis | 5.6% | 1/18 |
| Pericarditis | 5.6% | 1/18 |
| Recurrent bronchitis | 5.6% | 1/18 |
| Recurrent pneumonia | 5.6% | 1/18 |
| Sepsis | 5.6% | 1/18 |
| Splenomegaly | 5.6% | 1/18 |
| Neoplasia | ||
| Neoplasia | 33.3% | 1/3 |
| Neoplasm of the heart | 33.3% | 1/3 |