GATA3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.7% | 23/61 |
| Female | 55.7% | 34/61 |
| Indifferent | 0% | 0/61 |
| Unknown | 6.6% | 4/61 |
| General | ||
| Birth Length abnormalities | 0% | 0/61 |
| Birth Weight abnormalities | 0% | 0/61 |
| Birth Head circumference abnormalities | 0% | 0/61 |
| Current Height abnormalities | 1.6% | 1/61 |
| < P3 : Short stature | 1.6% | 1/61 |
| Current Weight abnormalities | 1.6% | 1/61 |
| > P98 : Increased body weight | 1.6% | 1/61 |
| Current Head circumference abnormalities | 0% | 0/61 |
| Neurology | ||
| Neurological abnormalities | 94.1% | 32/34 |
| Tetany | 47.1% | 16/34 |
| Seizure | 23.5% | 8/34 |
| Bilateral tonic-clonic seizure | 8.8% | 3/34 |
| Apnea | 5.9% | 2/34 |
| Involuntary movements | 5.9% | 2/34 |
| Muscle spasm | 5.9% | 2/34 |
| Paresthesia | 5.9% | 2/34 |
| Delayed speech and language development | 2.9% | 1/34 |
| Exercise-induced muscle cramps | 2.9% | 1/34 |
| Facial tics | 2.9% | 1/34 |
| Febrile seizure (within the age range of 3 months to 6 years) | 2.9% | 1/34 |
| Generalized-onset seizure | 2.9% | 1/34 |
| Global developmental delay | 2.9% | 1/34 |
| Horizontal nystagmus | 2.9% | 1/34 |
| Intellectual disability | 2.9% | 1/34 |
| Limb fasciculations | 2.9% | 1/34 |
| Loss of consciousness | 2.9% | 1/34 |
| Reduced tendon reflexes | 2.9% | 1/34 |
| Behavioral problems | 28.6% | 2/7 |
| Aggressive behavior | 14.3% | 1/7 |
| obsolete Impaired social interactions | 14.3% | 1/7 |
| Brain abnormality | 64.3% | 9/14 |
| Cerebral calcification | 42.9% | 6/14 |
| Basal ganglia calcification | 21.4% | 3/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 3/15 |
| Low-set ears | 6.7% | 1/15 |
| Posteriorly rotated ears | 6.7% | 1/15 |
| Abnormality of the eye | 31.3% | 5/16 |
| Bilateral ptosis | 6.3% | 1/16 |
| Congenital bilateral ptosis | 6.3% | 1/16 |
| Hypertelorism | 6.3% | 1/16 |
| Proptosis | 6.3% | 1/16 |
| Ptosis | 6.3% | 1/16 |
| Abnormality of the nose | 6.3% | 1/16 |
| Depressed nasal bridge | 6.3% | 1/16 |
| Abnormality of the mouth | 18.8% | 3/16 |
| Enamel hypomineralization | 6.3% | 1/16 |
| High, narrow palate | 6.3% | 1/16 |
| Micrognathia | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal hearing | 95.1% | 58/61 |
| Bilateral sensorineural hearing impairment | 39.3% | 24/61 |
| Sensorineural hearing impairment | 24.6% | 15/61 |
| Moderate sensorineural hearing impairment | 16.4% | 10/61 |
| Severe sensorineural hearing impairment | 4.9% | 3/61 |
| Childhood onset sensorineural hearing impairment | 1.6% | 1/61 |
| Congenital sensorineural hearing impairment | 1.6% | 1/61 |
| Hearing impairment | 1.6% | 1/61 |
| High-frequency sensorineural hearing impairment | 1.6% | 1/61 |
| Mild neurosensory hearing impairment | 1.6% | 1/61 |
| Mixed hearing impairment | 1.6% | 1/61 |
| Abnormal vision | 9.4% | 3/32 |
| Astigmatism | 3.1% | 1/32 |
| Cataract | 3.1% | 1/32 |
| Hypermetropia | 3.1% | 1/32 |
| Juvenile cataract | 3.1% | 1/32 |
| Myopia | 3.1% | 1/32 |
| Pseudopapilledema | 3.1% | 1/32 |
| Heart | ||
| Abnormality of the heart | 37.5% | 3/8 |
| Cardiomyopathy | 12.5% | 1/8 |
| Congestive heart failure | 12.5% | 1/8 |
| Supraventricular tachycardia | 12.5% | 1/8 |
| Vascular ring | 12.5% | 1/8 |
| Pulmonary | ||
| Abnormality of the lungs | 62.5% | 5/8 |
| Choanal stenosis | 25.0% | 2/8 |
| Pneumonia | 25.0% | 2/8 |
| Chronic pulmonary obstruction | 12.5% | 1/8 |
| Respiratory tract infection | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 9.1% | 1/11 |
| Hepatic calcification | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 60.7% | 34/56 |
| Renal hypoplasia | 16.1% | 9/56 |
| Proteinuria | 10.7% | 6/56 |
| Chronic kidney disease | 8.9% | 5/56 |
| Renal insufficiency | 8.9% | 5/56 |
| Unilateral renal agenesis | 8.9% | 5/56 |
| Vesicoureteral reflux | 8.9% | 5/56 |
| Ovarian cyst | 7.1% | 4/56 |
| Pyelonephritis | 7.1% | 4/56 |
| Uterus didelphys | 7.1% | 4/56 |
| Abnormal renal physiology | 5.4% | 3/56 |
| Renal cyst | 5.4% | 3/56 |
| Abnormal fallopian tube morphology | 3.6% | 2/56 |
| Abnormality of the uterus | 3.6% | 2/56 |
| Multiple renal cysts | 3.6% | 2/56 |
| Recurrent pyelonephritis | 3.6% | 2/56 |
| Renal agenesis | 3.6% | 2/56 |
| Unilateral renal dysplasia | 3.6% | 2/56 |
| Abnormal bleeding | 1.8% | 1/56 |
| Abnormality of the kidney | 1.8% | 1/56 |
| Abnormality of the urinary system | 1.8% | 1/56 |
| Acute pancreatitis | 1.8% | 1/56 |
| Adrenal calcification | 1.8% | 1/56 |
| Aplasia of the vagina | 1.8% | 1/56 |
| Aplasia of the uterus | 1.8% | 1/56 |
| Bilateral renal hypoplasia | 1.8% | 1/56 |
| Decreased glomerular filtration rate | 1.8% | 1/56 |
| Duplication of renal pelvis | 1.8% | 1/56 |
| Ectopic kidney | 1.8% | 1/56 |
| Enuresis | 1.8% | 1/56 |
| Focal segmental glomerulosclerosis | 1.8% | 1/56 |
| Glomerular sclerosis | 1.8% | 1/56 |
| Horseshoe kidney | 1.8% | 1/56 |
| Hydronephrosis | 1.8% | 1/56 |
| Hypertension | 1.8% | 1/56 |
| Multicystic kidney dysplasia | 1.8% | 1/56 |
| Nephrolithiasis | 1.8% | 1/56 |
| Nephritis | 1.8% | 1/56 |
| Pelvic kidney | 1.8% | 1/56 |
| Polycystic ovaries | 1.8% | 1/56 |
| Polyuria | 1.8% | 1/56 |
| Recurrent cystitis | 1.8% | 1/56 |
| Recurrent urinary tract infections | 1.8% | 1/56 |
| Renal atrophy | 1.8% | 1/56 |
| Renal malrotation | 1.8% | 1/56 |
| Unilateral renal hypoplasia | 1.8% | 1/56 |
| Ureterocele | 1.8% | 1/56 |
| Vaginal atresia | 1.8% | 1/56 |
| Skeleton | ||
| Skeletal abnormalities | 20.0% | 2/10 |
| Clinodactyly of the 4th toe | 10.0% | 1/10 |
| Flexion contracture | 10.0% | 1/10 |
| Short neck | 10.0% | 1/10 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 71.7% | 43/60 |
| Hypoparathyroidism | 60.0% | 36/60 |
| Hypothyroidism | 8.3% | 5/60 |
| Autoimmune hypoparathyroidism | 1.7% | 1/60 |
| Parathyroid agenesis | 1.7% | 1/60 |
| Primary amenorrhea | 1.7% | 1/60 |
| Abnormality of the metabolic system | 82.4% | 42/51 |
| Hypocalcemia | 78.4% | 40/51 |
| Hyperphosphatemia | 41.2% | 21/51 |
| Elevated circulating creatinine concentration | 5.9% | 3/51 |
| Decreased serum creatinine | 3.9% | 2/51 |
| Abnormality of urine homeostasis | 2.0% | 1/51 |
| Decreased circulating calcifediol concentration | 2.0% | 1/51 |
| Diabetes mellitus | 2.0% | 1/51 |
| Hypercalciuria | 2.0% | 1/51 |
| Hypoglycemia | 2.0% | 1/51 |
| Hypomagnesemia | 2.0% | 1/51 |
| Increased blood urea nitrogen | 2.0% | 1/51 |
| Abnormality of the immune system | 14.3% | 1/7 |
| obsolete Decreased helper T cell proportion | 14.3% | 1/7 |