Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.500 |
None |
1.000 |
37 |
1
|
1998 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
3
|
1998 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
7 |
1
|
1998 |
2016 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
7 |
2
|
1998 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2012 |
Hypertrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
92
|
27
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2013 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2016 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.110 |
None |
1.000 |
2 |
3
|
2013 |
2016 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2012 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2001 |
2009 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.110 |
None |
1.000 |
2 |
1
|
2001 |
2016 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2004 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hypocupremia
|
disease |
|
Disease or Syndrome
|
23
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Mixed sensory-motor polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hypertrophic olivary degeneration
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
SURF1-related Charcot-Marie-Tooth disease type 4
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
None |
1.000 |
1 |
5
|
2013 |
2013 |