MORC2

Graph and Chart

Patient Overview : 21

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 42.9% 9/21
Female 57.1% 12/21
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 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
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
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