Gender |
|
|
Male |
46.2% |
18/39 |
Female |
53.8% |
21/39 |
General |
|
|
Birth Length abnormalities |
0% |
0/40 |
Birth Weight abnormalities |
0% |
0/40 |
Birth Head circumference abnormalities |
0% |
0/40 |
Current Height abnormalities |
0% |
0/40 |
Current Weight abnormalities |
0% |
0/40 |
Current Head circumference abnormalities |
0% |
0/40 |
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 |
Abnormality of the fallopian tube |
5.4% |
2/37 |
Multiple renal cysts |
5.4% |
2/37 |
Recurrent pyelonephritis |
5.4% |
2/37 |
Renal cyst |
5.4% |
2/37 |
Renal insufficiency |
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 uterus |
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 |
Nephrolithiasis |
2.7% |
1/37 |
Pelvic kidney |
2.7% |
1/37 |
Polyuria |
2.7% |
1/37 |
Recurrent urinary tract infections |
2.7% |
1/37 |
Recurrent cystitis |
2.7% |
1/37 |
Renal malrotation |
2.7% |
1/37 |
Renal agenesis |
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 |