Patient Overview : 40

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 46.2% 18/39
Female 53.8% 21/39
Neurology    
Neurological abnormalities 96.2% 25/26
Tetany 50.0% 13/26
Seizures 26.9% 7/26
Apnea 7.7% 2/26
Generalized tonic-clonic seizures 7.7% 2/26
Paresthesia 7.7% 2/26
Exercise-induced muscle cramps 3.8% 1/26
Facial tics 3.8% 1/26
Generalized seizures 3.8% 1/26
Horizontal nystagmus 3.8% 1/26
Involuntary movements 3.8% 1/26
Limb fasciculations 3.8% 1/26
Muscle cramps 3.8% 1/26
Reduced tendon reflexes 3.8% 1/26
Behavioral problems 20.0% 1/5
Impaired social interactions 20.0% 1/5
Brain abnormality 63.6% 7/11
Cerebral calcification 45.5% 5/11
Basal ganglia calcification 18.2% 2/11
Facial abnormalities    
Abnormality of the ear 14.3% 1/7
Posteriorly rotated ears 14.3% 1/7
Abnormality of the eye 50.0% 4/8
Bilateral ptosis 12.5% 1/8
Congenital bilateral ptosis 12.5% 1/8
Proptosis 12.5% 1/8
Ptosis 12.5% 1/8
Abnormality of the nose 12.5% 1/8
Depressed nasal bridge 12.5% 1/8
Abnormality of the mouth 25.0% 2/8
Hypomineralization of enamel 12.5% 1/8
Micrognathia 12.5% 1/8
Visual and hearing impairments    
Abnormal hearing 97.5% 39/40
Bilateral sensorineural hearing impairment 37.5% 15/40
Moderate sensorineural hearing impairment 25.0% 10/40
Sensorineural hearing impairment 15.0% 6/40
Severe sensorineural hearing impairment 7.5% 3/40
Childhood onset sensorineural hearing impairment 2.5% 1/40
Hearing impairment 2.5% 1/40
High-frequency sensorineural hearing impairment 2.5% 1/40
Mild neurosensory hearing impairment 2.5% 1/40
Mixed hearing impairment 2.5% 1/40
Abnormal vision 13.0% 3/23
Astigmatism 4.3% 1/23
Cataract 4.3% 1/23
Hypermetropia 4.3% 1/23
Juvenile cataract 4.3% 1/23
Myopia 4.3% 1/23
Pseudopapilledema 4.3% 1/23
Heart    
Abnormality of the heart 40.0% 2/5
Cardiomyopathy 20.0% 1/5
Vascular ring 20.0% 1/5
Pulmonary    
Abnormality of the lungs 80.0% 4/5
Choanal stenosis 40.0% 2/5
Pneumonia 20.0% 1/5
Respiratory tract infection 20.0% 1/5
Gastrointestinal    
Gastrointestinal abnormalities 16.7% 1/6
Hepatic calcification 16.7% 1/6
Urogenital    
Abnormality of the urogenital system 78.4% 29/37
Renal hypoplasia 24.3% 9/37
Proteinuria 13.5% 5/37
Vesicoureteral reflux 13.5% 5/37
Chronic kidney disease 10.8% 4/37
Ovarian cyst 10.8% 4/37
Pyelonephritis 10.8% 4/37
Unilateral renal agenesis 10.8% 4/37
Uterus didelphys 10.8% 4/37
Abnormal renal physiology 8.1% 3/37
Abnormality of the uterus 5.4% 2/37
Multiple renal cysts 5.4% 2/37
Recurrent pyelonephritis 5.4% 2/37
Renal cyst 5.4% 2/37
Unilateral renal dysplasia 5.4% 2/37
Abnormal bleeding 2.7% 1/37
Acute pancreatitis 2.7% 1/37
Adrenal calcification 2.7% 1/37
Aplasia of the vagina 2.7% 1/37
Bilateral renal hypoplasia 2.7% 1/37
Decreased glomerular filtration rate 2.7% 1/37
Duplication of renal pelvis 2.7% 1/37
Enuresis 2.7% 1/37
Focal segmental glomerulosclerosis 2.7% 1/37
Glomerulosclerosis 2.7% 1/37
Horseshoe kidney 2.7% 1/37
Hydronephrosis 2.7% 1/37
Hypertension 2.7% 1/37
Multicystic kidney dysplasia 2.7% 1/37
Nephritis 2.7% 1/37
Pelvic kidney 2.7% 1/37
Polyuria 2.7% 1/37
Recurrent urinary tract infections 2.7% 1/37
Renal malrotation 2.7% 1/37
Ureterocele 2.7% 1/37
Vaginal atresia 2.7% 1/37
Skeleton    
Skeletal abnormalities 33.3% 2/6
Clinodactyly of the 4th toe 16.7% 1/6
Flexion contracture 16.7% 1/6
Short neck 16.7% 1/6
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 76.9% 30/39
Hypoparathyroidism 61.5% 24/39
Hypothyroidism 12.8% 5/39
Autoimmune hypoparathyroidism 2.6% 1/39
Parathyroid agenesis 2.6% 1/39
Primary amenorrhea 2.6% 1/39
Abnormality of the metabolic system 96.7% 29/30
Hypocalcemia 96.7% 29/30
Hyperphosphatemia 56.7% 17/30
Elevated serum creatinine 10.0% 3/30
Abnormality of urine homeostasis 3.3% 1/30
Hypercalciuria 3.3% 1/30
Hypoglycemia 3.3% 1/30
Hypomagnesemia 3.3% 1/30
Increased blood urea nitrogen (BUN) 3.3% 1/30
Low serum calcifediol (25-hydroxycholecalciferol) 3.3% 1/30
Abnormality of the immune system 16.7% 1/6
Reduced circulating T-helper cells 16.7% 1/6