| Gender |
|
|
| Male |
45.0% |
18/40 |
| Female |
52.5% |
21/40 |
| Indifferent |
0% |
0/40 |
| Unknown |
2.5% |
1/40 |
| 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 vagina |
2.7% |
1/37 |
| Aplasia of the uterus |
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 |
| Nephrolithiasis |
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 |
| Recurrent cystitis |
2.7% |
1/37 |
| Renal agenesis |
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 |