Abnormality of mitochondrial metabolism
phenotype
Finding
21
3
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
0
Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
0.110
None
1.000
1
2017
2017
Arthrogryposis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.100
None
0
Babinski Reflex
phenotype
Finding
218
11
0.100
None
0
Byzanthine arch palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
Congenital Abnormality
497
70
0.100
None
0
Cerebellar atrophy
disease
Disease or Syndrome
321
67
0.100
None
0
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.100
None
0
Cerebral white matter atrophy
disease
Pathological Conditions, Signs and Symptoms
Anatomical Abnormality
20
11
0.100
None
0
Decreased Achilles reflex
phenotype
Finding
7
0.100
None
0
Decreased activity of mitochondrial complex I
phenotype
Finding
41
3
0.100
None
0
Decreased activity of mitochondrial complex II
phenotype
Finding
7
2
0.100
None
0
Developmental regression
disease
Mental Disorders
Disease or Syndrome
333
80
0.100
None
0
Difficulty walking
phenotype
Pathological Conditions, Signs and Symptoms
Finding
224
30
0.100
None
0
Distal amyotrophy
disease
Disease or Syndrome
106
7
0.100
None
0
Distal lower limb muscle weakness
phenotype
Finding
49
11
0.100
None
0
Distal peripheral sensory neuropathy
disease
Disease or Syndrome
6
0.100
None
0
Distal sensory impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
86
5
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
EMG: neuropathic changes
phenotype
Finding
28
5
0.100
None
0
Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.110
None
1.000
1
2013
2013
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
Hyperactive patellar reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
14
3
0.100
None
0
Hyperreflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
539
19
0.100
None
0