MORC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 9/21 |
| Female | 57.1% | 12/21 |
| 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 | 85.7% | 18/21 |
| < P3 : Short stature | 85.7% | 18/21 |
| Current Weight abnormalities | 52.4% | 11/21 |
| < P3 : Decreased body weight | 52.4% | 11/21 |
| Current Head circumference abnormalities | 76.2% | 16/21 |
| < P3 : Microcephaly | 76.2% | 16/21 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 21/21 |
| Muscular hypotonia | 42.9% | 9/21 |
| Muscle weakness | 33.3% | 7/21 |
| Gait disturbance | 28.6% | 6/21 |
| Pes cavus | 28.6% | 6/21 |
| Hyperreflexia | 23.8% | 5/21 |
| Spasticity | 23.8% | 5/21 |
| Areflexia | 19.0% | 4/21 |
| Hyporeflexia | 19.0% | 4/21 |
| Ataxia | 14.3% | 3/21 |
| Hammertoe | 14.3% | 3/21 |
| Sensorimotor neuropathy | 14.3% | 3/21 |
| Broad-based gait | 9.5% | 2/21 |
| Dystonia | 9.5% | 2/21 |
| Elevated serum creatine phosphokinase | 9.5% | 2/21 |
| Intention tremor | 9.5% | 2/21 |
| Scoliosis | 9.5% | 2/21 |
| Seizures | 9.5% | 2/21 |
| Tremor | 9.5% | 2/21 |
| Absence seizures | 4.8% | 1/21 |
| Action tremor | 4.8% | 1/21 |
| Dysmetria | 4.8% | 1/21 |
| Exotropia | 4.8% | 1/21 |
| Flexion contracture | 4.8% | 1/21 |
| Foot dorsiflexor weakness | 4.8% | 1/21 |
| Gait imbalance | 4.8% | 1/21 |
| Generalized hypotonia | 4.8% | 1/21 |
| Hyperlordosis | 4.8% | 1/21 |
| Hyporeflexia of lower limbs | 4.8% | 1/21 |
| Involuntary jerking movements | 4.8% | 1/21 |
| Kyphosis | 4.8% | 1/21 |
| Limb hypertonia | 4.8% | 1/21 |
| Limb muscle weakness | 4.8% | 1/21 |
| Lower limb hyperreflexia | 4.8% | 1/21 |
| Motor axonal neuropathy | 4.8% | 1/21 |
| Muscular hypotonia of the trunk | 4.8% | 1/21 |
| Paresthesia | 4.8% | 1/21 |
| Peripheral axonal neuropathy | 4.8% | 1/21 |
| Proximal muscle weakness | 4.8% | 1/21 |
| Resting tremor | 4.8% | 1/21 |
| Sensory neuropathy | 4.8% | 1/21 |
| Skeletal muscle atrophy | 4.8% | 1/21 |
| Toe walking | 4.8% | 1/21 |
| Velopharyngeal insufficiency | 4.8% | 1/21 |
| Behavioral problems | 20.0% | 1/5 |
| Autism | 20.0% | 1/5 |
| Brain abnormality | 68.4% | 13/19 |
| Abnormality of the cerebral white matter | 26.3% | 5/19 |
| Cerebral atrophy | 26.3% | 5/19 |
| Cerebellar atrophy | 15.8% | 3/19 |
| Abnormality of the basal ganglia | 10.5% | 2/19 |
| Delayed myelination | 10.5% | 2/19 |
| Focal T2 hyperintense basal ganglia lesion | 10.5% | 2/19 |
| Ventriculomegaly | 10.5% | 2/19 |
| Cavitation of the basal ganglia | 5.3% | 1/19 |
| CNS hypomyelination | 5.3% | 1/19 |
| Cortical dysplasia | 5.3% | 1/19 |
| Dilation of lateral ventricles | 5.3% | 1/19 |
| Facial abnormalities | ||
| Abnormality of the eye | 71.4% | 15/21 |
| Ptosis | 4.8% | 1/21 |
| Abnormality of the mouth | 15.8% | 3/19 |
| Abnormality of the tongue | 5.3% | 1/19 |
| Visual and hearing impairments | ||
| Abnormal hearing | 55.0% | 11/20 |
| Sensorineural hearing impairment | 45.0% | 9/20 |
| Hearing impairment | 10.0% | 2/20 |
| Conductive hearing impairment | 5.0% | 1/20 |
| Abnormal vision | 47.6% | 10/21 |
| Esotropia | 9.5% | 2/21 |
| Abnormality of retinal pigmentation | 4.8% | 1/21 |
| Heterochromia iridis | 4.8% | 1/21 |
| Macular degeneration | 4.8% | 1/21 |
| Myopia | 4.8% | 1/21 |
| Pigmentary retinal deposits | 4.8% | 1/21 |
| Pigmentary retinopathy | 4.8% | 1/21 |
| Ptosis | 4.8% | 1/21 |
| Retinal dystrophy | 4.8% | 1/21 |
| Strabismus | 4.8% | 1/21 |
| Heart | ||
| Abnormality of the heart | 10.5% | 2/19 |
| Tetralogy of Fallot | 5.3% | 1/19 |
| Wolff-Parkinson-White syndrome | 5.3% | 1/19 |
| Pulmonary | ||
| Abnormality of the lungs | 5.3% | 1/19 |
| Respiratory failure | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 25.0% | 5/20 |
| Gastroesophageal reflux | 15.0% | 3/20 |
| Constipation | 10.0% | 2/20 |
| Feeding difficulties in infancy | 10.0% | 2/20 |
| Esophagitis | 5.0% | 1/20 |
| Gallbladder dysfunction | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 5.3% | 1/19 |
| Duplicated collecting system | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 25.0% | 5/20 |
| Broad toe | 10.0% | 2/20 |
| Clinodactyly | 5.0% | 1/20 |
| Clinodactyly of the 5th finger | 5.0% | 1/20 |
| Pectus excavatum | 5.0% | 1/20 |
| Proximal placement of thumb | 5.0% | 1/20 |
| Sandal gap | 5.0% | 1/20 |
| Short toe | 5.0% | 1/20 |
| Small hand | 5.0% | 1/20 |
| Toe clinodactyly | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 15.0% | 3/20 |
| Cutis marmorata | 5.0% | 1/20 |
| Hirsutism | 5.0% | 1/20 |
| Hypopigmentation of the skin | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 52.6% | 10/19 |
| Precocious puberty | 21.1% | 4/19 |
| Growth hormone deficiency | 15.8% | 3/19 |
| Hypothyroidism | 15.8% | 3/19 |
| Delayed puberty | 5.3% | 1/19 |
| Polycystic ovaries | 5.3% | 1/19 |
| Premature thelarche | 5.3% | 1/19 |
| Vitamin D deficiency | 5.3% | 1/19 |
| Abnormality of the metabolic system | 5.3% | 1/19 |
| Lactic acidosis | 5.3% | 1/19 |
| Abnormality of the immune system | 5.3% | 1/19 |
| Neutropenia | 5.3% | 1/19 |