| NDUFA12L |
252010 |
Musculoskeletal-diseases |
|
musculoskeletal |
#16200211 |
| NDUFA12L |
252010 |
Bone-diseases |
|
musculoskeletal |
#16200211 |
| NDUFA12L |
252010 |
Metabolic-bone-diseases |
|
musculoskeletal |
#16200211 |
| NDUFA12L |
252010 |
Osteoporosis |
|
musculoskeletal |
16200211 |
| NDUFA12L |
252010 |
Spinal-diseases |
scoliosis
|
musculoskeletal |
16200211 |
| NDUFA12L |
252010 |
Digestive-system-diseases |
|
gastrointestinal |
#16200211 |
| NDUFA12L |
252010 |
Gastrointestinal-diseases |
|
gastrointestinal |
#16200211 |
| NDUFA12L |
252010 |
Deglutition-disorders |
dysphagia
|
gastrointestinal |
16200211 |
| NDUFA12L |
252010 |
Respiratory-tract-diseases |
|
respiratory |
#16200211 |
| NDUFA12L |
252010 |
Lung-diseases |
|
respiratory |
#16200211 |
| NDUFA12L |
252010 |
Pneumonia |
recurrent pneumonias
|
respiratory |
16200211 |
| NDUFA12L |
252010 |
Respiration-disorders |
|
respiratory |
#16200211 |
| NDUFA12L |
252010 |
Respiratory-insufficiency |
sleep apnea; respiratory failure
|
respiratory |
16200211 |
| NDUFA12L |
252010 |
Nervous-system-diseases |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Central-nervous-system-diseases |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Brain-diseases |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Encephalopathy |
encephalomalacia
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Leukoencephalopathy |
diagnostic criteria for leukoencephalopathy; vanishing white matter
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Cerebellar-atrophy |
spongiform changes; vermian atrophy; cerebellar atrophy
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Cerebral-atrophy |
cortical atrophy
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Cerebral-necrosis |
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Corpus-callosum-hypoplasia |
reduced to very thin lamina
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Spinal-cord-diseases |
myelomalacia; encephalomyelopathy; Leigh like
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; bilateral symmetric; mamillothalamic tracts abnormal; substantia nigra abnormal; medial lemniscus abnormal; medial longitudinal fasciculus abnormal; spinothalamic tracts abnormal; corpus medullare abnormal; globus pallidus abnormal; striatum abnormal; thalamus abnormal; hypothalamus abnormal
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Neurologic-manifestations |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Ataxia |
mild
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Gait-disorders |
wide based
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Neurobehavioral-manifestations |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Consciousness-disorders |
coma
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Developmental-delay |
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Lethargy |
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Neuromuscular-manifestations |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Muscle-hypotonia |
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Muscle-weakness |
myopathic face
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Muscular-atrophy |
muscle wasting
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Electromyography-abnormal |
EMG patterns abnormal
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Reflexes-abnormal |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Hyporeflexia |
tendon reflexes absent
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Peripheral-nervous-system-diseases |
|
neurologic |
#16200211 |
| NDUFA12L |
252010 |
Polyneuropathies |
demyelination; polyradiculoneuropathy; nerve conduction abnormal
|
neurologic |
16200211 |
| NDUFA12L |
252010 |
Eye-diseases |
|
ophthalmologic |
#16200211 |
| NDUFA12L |
252010 |
Ocular-motility-disorders |
|
ophthalmologic |
#16200211 |
| NDUFA12L |
252010 |
Pathologic-nystagmus |
horizontal nystagmus
|
ophthalmologic |
16200211 |
| NDUFA12L |
252010 |
Optic-nerve-diseases |
optic atrophy; pale optic disc
|
ophthalmologic |
16200211 |
| NDUFA12L |
252010 |
Genitourinary-diseases |
|
genitourinary |
#16200211 |
| NDUFA12L |
252010 |
Urologic-diseases |
|
genitourinary |
#16200211 |
| NDUFA12L |
252010 |
Urination-disorders |
dysuria
|
genitourinary |
16200211 |
| NDUFA12L |
252010 |
Cardiovascular-diseases |
|
cardiovascular |
#16200211 |
| NDUFA12L |
252010 |
Heart-diseases |
|
cardiovascular |
#16200211 |
| NDUFA12L |
252010 |
Arrhythmia |
tachycardia
|
cardiovascular |
16200211 |
| NDUFA12L |
252010 |
Cardiomyopathy |
hypertrophic
|
cardiovascular |
16200211 |
| NDUFA12L |
252010 |
Vascular-diseases |
|
cardiovascular |
#16200211 |
| NDUFA12L |
252010 |
Hypertension |
|
cardiovascular |
16200211 |
| NDUFA12L |
252010 |
Hematologic-diseases |
|
hematologic |
#16200211 |
| NDUFA12L |
252010 |
Anemia |
microcytic
|
hematologic |
16200211 |
| NDUFA12L |
252010 |
Metabolic-diseases |
|
metabolic |
#16200211 |
| NDUFA12L |
252010 |
Acid-base-imbalance |
|
metabolic |
#16200211 |
| NDUFA12L |
252010 |
Acidosis |
CSF lactate elevated
|
metabolic |
16200211 |
| NDUFA12L |
252010 |
Water-electrolyte-imbalance |
|
metabolic |
#16200211 |
| NDUFA12L |
252010 |
Dehydration |
|
metabolic |
16200211 |
| NDUFA12L |
252010 |
Endocrine-system-diseases |
|
endocrinologic |
#16200211 |
| NDUFA12L |
252010 |
Gonadal-disorders |
|
endocrinologic |
#16200211 |
| NDUFA12L |
252010 |
Precocious-puberty |
central precocious puberty
|
endocrinologic |
16200211 |
| NDUFA12L |
252010 |
Thyroid-diseases |
T4 elevated; TSH elevated
|
endocrinologic |
16200211 |
| NDUFA12L |
252010 |
Immune-system-diseases |
|
immunologic |
#16200211 |
| NDUFA12L |
252010 |
Infections |
respiratory tract infections; otitis media
|
immunologic |
16200211 |
| NDUFA12L |
252010 |
Body-temperature-changes |
temperature instability
|
miscellaneous |
16200211 |
| NDUFA12L |
252010 |
RCCI-deficiency |
muscle
|
miscellaneous |
16200211 |
