| ATPAF2 |
604273 |
Musculoskeletal-diseases |
|
musculoskeletal |
#14757859 |
| ATPAF2 |
604273 |
Bone-diseases |
|
musculoskeletal |
#14757859 |
| ATPAF2 |
604273 |
Spinal-diseases |
kyphoscoliosis
|
musculoskeletal |
14757859 |
| ATPAF2 |
604273 |
Craniofacial-abnormalities |
|
musculoskeletal |
#14757859 |
| ATPAF2 |
604273 |
Microcephaly |
|
musculoskeletal |
14757859 |
| ATPAF2 |
604273 |
Digestive-system-diseases |
|
gastrointestinal |
#14757859 |
| ATPAF2 |
604273 |
Liver-diseases |
|
gastrointestinal |
#14757859 |
| ATPAF2 |
604273 |
Hepatomegaly |
|
gastrointestinal |
14757859 |
| ATPAF2 |
604273 |
Nervous-system-diseases |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Central-nervous-system-diseases |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Brain-diseases |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Cerebrovascular-disorders |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Intracranial-hemorrhages |
intraventricular haemorrhage; Cerebral ultrasound findings
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Seizures |
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Leukoencephalopathy |
white matter disease; white matter hypoplasia
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Cerebral-atrophy |
cortical atrophy; subcortical; basal ganglia
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Corpus-callosum-hypoplasia |
dysgenesis; absent anterior genu; absent rostrum
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Neurologic-manifestations |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Neurobehavioral-manifestations |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Mental-retardation |
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Developmental-delay |
psychomotor retardation
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Neuromuscular-manifestations |
|
neurologic |
#14757859 |
| ATPAF2 |
604273 |
Muscle-hypertonia |
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Muscle-hypotonia |
progressive
|
neurologic |
14757859 |
| ATPAF2 |
604273 |
Genitourinary-diseases |
|
genitourinary |
#14757859 |
| ATPAF2 |
604273 |
Urologic-diseases |
|
genitourinary |
#14757859 |
| ATPAF2 |
604273 |
Kidney-diseases |
kidney hypoplasia; hypoplastic kidneys
|
genitourinary |
14757859 |
| ATPAF2 |
604273 |
Renal-insufficiency |
due to kidney hypoplasia
|
genitourinary |
14757859 |
| ATPAF2 |
604273 |
Cardiovascular-diseases |
|
cardiovascular |
#14757859 |
| ATPAF2 |
604273 |
Congenital-heart-defects |
congenital heart defect; small left ventricle
|
cardiovascular |
14757859 |
| ATPAF2 |
604273 |
Cardiorespiratory-arrest |
cardiac arrest; several episodes
|
cardiovascular |
14757859 |
| ATPAF2 |
604273 |
Vascular-diseases |
|
cardiovascular |
#14757859 |
| ATPAF2 |
604273 |
Hypotension |
hypotensive
|
cardiovascular |
14757859 |
| ATPAF2 |
604273 |
Blood-circulation-disorder |
poor peripheral circulation
|
cardiovascular |
14757859 |
| ATPAF2 |
604273 |
Metabolic-diseases |
|
metabolic |
#14757859 |
| ATPAF2 |
604273 |
Acid-base-imbalance |
|
metabolic |
#14757859 |
| ATPAF2 |
604273 |
Acidosis |
lactic acidosis
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
Aminoacid-levels-abnormal |
elevated alanine
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
Aminoaciduria |
increased urinary amino acids
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
Organic-acids-abnormal |
lactic aciduria; elevated tricarboxylic acid cycle intermediates; methylglutaconic aciduria
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
Methylglutaconic-aciduria |
increased urinary methylglutaconic acid
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
TCA-intermediates-elevated |
tricarboxylic acid cycle intermediates elevated; increased urinary fumarate
|
metabolic |
14757859 |
| ATPAF2 |
604273 |
Immune-system-diseases |
|
immunologic |
#14757859 |
| ATPAF2 |
604273 |
Infections |
intercurrent
|
immunologic |
14757859 |
| ATPAF2 |
604273 |
Growth-disorders |
|
miscellaneous |
#14757859 |
| ATPAF2 |
604273 |
Failure-to-thrive |
|
miscellaneous |
14757859 |
| ATPAF2 |
604273 |
Dysmorphism-and-abnormalities |
micrognathia; short philtrum; low set ears; prominent nasal bridge; camptodactyly; craniofacial dysmorphism; contractures; rocker bottom feet; blepharophimosis; Cerebro oculofacioskeletal syndrome like
|
miscellaneous |
14757859 |
| ATPAF2 |
604273 |
RCCIV-deficiency |
liver
|
miscellaneous |
14757859 |
| ATPAF2 |
604273 |
RCCV-deficiency |
liver; muscle
|
miscellaneous |
14757859 |
