| DNAJC19 |
608977 |
Digestive-system-diseases |
|
gastrointestinal |
#16055927 |
| DNAJC19 |
608977 |
Liver-diseases |
|
gastrointestinal |
#16055927 |
| DNAJC19 |
608977 |
Fatty-liver |
steatosis; microvesicular
|
gastrointestinal |
16055927 |
| DNAJC19 |
608977 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated; mildly elevation
|
gastrointestinal |
16055927 |
| DNAJC19 |
608977 |
Nervous-system-diseases |
|
neurologic |
#16055927 |
| DNAJC19 |
608977 |
Central-nervous-system-diseases |
|
neurologic |
#16055927 |
| DNAJC19 |
608977 |
Brain-diseases |
|
neurologic |
#16055927 |
| DNAJC19 |
608977 |
Seizures |
|
neurologic |
16055927 |
| DNAJC19 |
608977 |
Neurologic-manifestations |
|
neurologic |
#16055927 |
| DNAJC19 |
608977 |
Ataxia |
cerebellar; cerebellar ataxia; non progressive
|
neurologic |
16055927 |
| DNAJC19 |
608977 |
Neurobehavioral-manifestations |
|
neurologic |
#16055927 |
| DNAJC19 |
608977 |
Mental-retardation |
borderline; mild
|
neurologic |
16055927 |
| DNAJC19 |
608977 |
Developmental-delay |
motor delay
|
neurologic |
16055927 |
| DNAJC19 |
608977 |
Eye-diseases |
|
ophthalmologic |
#16055927 |
| DNAJC19 |
608977 |
Optic-nerve-diseases |
optic atrophy
|
ophthalmologic |
16055927 |
| DNAJC19 |
608977 |
Genitourinary-diseases |
|
genitourinary |
#16055927 |
| DNAJC19 |
608977 |
Urogenital-abnormalities |
|
genitourinary |
#16055927 |
| DNAJC19 |
608977 |
Cryptorchidism |
male genital anomalies; isolated cryptorchidism
|
genitourinary |
16055927 |
| DNAJC19 |
608977 |
Hypospadias |
hypospadia; perineal hypospadias
|
genitourinary |
16055927 |
| DNAJC19 |
608977 |
Cardiovascular-diseases |
|
cardiovascular |
#16055927 |
| DNAJC19 |
608977 |
Congenital-heart-defects |
atrial septal defect; ASD
|
cardiovascular |
16055927 |
| DNAJC19 |
608977 |
Heart-diseases |
|
cardiovascular |
#16055927 |
| DNAJC19 |
608977 |
Arrhythmia |
conduction defects; long QT syndrome; prolonged QT interval; EKG abnormal
|
cardiovascular |
16055927 |
| DNAJC19 |
608977 |
Cardiomyopathy |
dilated
|
cardiovascular |
16055927 |
| DNAJC19 |
608977 |
Cardiorespiratory-arrest |
sudden death; sudden cardiac death; cardiac failure
|
cardiovascular |
16055927 |
| DNAJC19 |
608977 |
Hematologic-diseases |
|
hematologic |
#16055927 |
| DNAJC19 |
608977 |
Anemia |
microcytic; normochromic
|
hematologic |
16055927 |
| DNAJC19 |
608977 |
Metabolic-diseases |
|
metabolic |
#16055927 |
| DNAJC19 |
608977 |
Organic-acids-abnormal |
3 methylglutaconic aciduria; 3 methylglutaric aciduria
|
metabolic |
16055927 |
| DNAJC19 |
608977 |
Methylglutaconic-aciduria |
3 methylglutaconic acid elevated
|
metabolic |
16055927 |
| DNAJC19 |
608977 |
Endocrine-system-diseases |
|
endocrinologic |
#16055927 |
| DNAJC19 |
608977 |
Gonadal-disorders |
|
endocrinologic |
#16055927 |
| DNAJC19 |
608977 |
Hypogonadism |
hypogonadism; testicular dysgenesis; testicular atrophy; Mullerian remnants
|
endocrinologic |
16055927 |
| DNAJC19 |
608977 |
Hypoandrogenism |
testosteron decreased; incomplete testosterone rise after hCG stimulation; hCG response abnormal
|
endocrinologic |
16055927 |
| DNAJC19 |
608977 |
Thyroid-diseases |
|
endocrinologic |
#16055927 |
| DNAJC19 |
608977 |
Hypothyroidism |
|
endocrinologic |
16055927 |
| DNAJC19 |
608977 |
Growth-disorders |
|
miscellaneous |
#16055927 |
| DNAJC19 |
608977 |
Growth-deficiency |
short stature; postnatal; prenatal; intrauterine growth deficiency
|
miscellaneous |
16055927 |
| DNAJC19 |
608977 |
Dysmorphism-and-abnormalities |
malformations; diaphragma abnormal; diaphragmatic eventration; arachnoid cysts; mullerian remnants
|
miscellaneous |
16055927 |