MYOD1

Graph and Chart

Patient Overview : 7

Frequency of all clinical findings

Percentage Cases
Gender    
Male 42.9% 3/7
Female 57.1% 4/7
Indifferent 0% 0/7
Unknown 0% 0/7
General    
Birth Length abnormalities 0% 0/7
Birth Weight abnormalities 57.1% 4/7
< P3 : Small for gestational age 57.1% 4/7
Birth Head circumference abnormalities 0% 0/7
Current Height abnormalities 28.6% 2/7
< P3 : Short stature 28.6% 2/7
Current Weight abnormalities 14.3% 1/7
< P3 : Decreased body weight 14.3% 1/7
Current Head circumference abnormalities 0% 0/7
Neurology    
Neurological abnormalities 50.0% 2/4
Dysphagia 50.0% 2/4
Gowers sign 50.0% 2/4
Abnormality of muscle size 25.0% 1/4
Areflexia 25.0% 1/4
Brisk reflexes 25.0% 1/4
Lower limb muscle weakness 25.0% 1/4
Muscular hypotonia of the trunk 25.0% 1/4
Neck flexor weakness 25.0% 1/4
Upper limb muscle weakness 25.0% 1/4
Waddling gait 25.0% 1/4
Weak voice 25.0% 1/4
Brain abnormality 100.0% 1/1
Abnormality of the cerebrospinal fluid 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 16.7% 1/6
Low-set ears 16.7% 1/6
Abnormality of the eye 71.4% 5/7
Downslanted palpebral fissures 42.9% 3/7
Ptosis 42.9% 3/7
Esotropia 14.3% 1/7
Proptosis 14.3% 1/7
Short palpebral fissure 14.3% 1/7
Telecanthus 14.3% 1/7
Underdeveloped supraorbital ridges 14.3% 1/7
Abnormality of the mouth 100.0% 6/6
Median cleft palate 50.0% 3/6
Mandibular prognathia 33.3% 2/6
Narrow jaw 33.3% 2/6
Tented upper lip vermilion 16.7% 1/6
Heart    
Abnormality of the heart 16.7% 1/6
Patent foramen ovale 16.7% 1/6
Pulmonary hypertension 16.7% 1/6
Tricuspid regurgitation 16.7% 1/6
Pulmonary    
Abnormality of the lungs 100.0% 7/7
Abnormality of the diaphragm 57.1% 4/7
Pulmonary hypoplasia 42.9% 3/7
Hypercapnia 28.6% 2/7
Respiratory failure 28.6% 2/7
Diaphragmatic eventration 14.3% 1/7
Dyspnea 14.3% 1/7
Pneumonia 14.3% 1/7
Respiratory distress 14.3% 1/7
Gastrointestinal    
Gastrointestinal abnormalities 14.3% 1/7
Decreased liver function 14.3% 1/7
Urogenital    
Abnormality of the urogenital system 28.6% 2/7
Cryptorchidism 28.6% 2/7
Dilatation of the renal pelvis 14.3% 1/7
Hydronephrosis 14.3% 1/7
Renal duplication 14.3% 1/7
Skeleton    
Skeletal abnormalities 100.0% 7/7
Distal arthrogryposis 28.6% 2/7
Overlapping toe 28.6% 2/7
Pectus excavatum 28.6% 2/7
Abnormality of the costochondral junction 14.3% 1/7
Abnormality of the scapula 14.3% 1/7
Clinodactyly of the 5th finger 14.3% 1/7
Hand clenching 14.3% 1/7
Interphalangeal joint contracture of finger 14.3% 1/7
Joint contracture of the hand 14.3% 1/7
Knee flexion contracture 14.3% 1/7
Narrow chest 14.3% 1/7
Overlapping fingers 14.3% 1/7
Small hand 14.3% 1/7
Tapered finger 14.3% 1/7
Thoracic kyphoscoliosis 14.3% 1/7
Toe clinodactyly 14.3% 1/7
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 14.3% 1/7
Generalized hypertrichosis 14.3% 1/7
Long eyelashes 14.3% 1/7
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 25.0% 1/4
Recurrent respiratory infections 25.0% 1/4