GATA3
| Percentage | Cases | |
|---|---|---|
| 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 fallopian tube | 5.4% | 2/37 |
| Abnormality of the uterus | 5.4% | 2/37 |
| Multiple renal cysts | 5.4% | 2/37 |
| Recurrent pyelonephritis | 5.4% | 2/37 |
| Renal insufficiency | 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 |
| 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 cystitis | 2.7% | 1/37 |
| Recurrent urinary tract infections | 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 |