Abnormal speech prosody
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|
Lacticaciduria
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense basal ganglia lesion
|
phenotype |
|
Finding
|
46
|
3
|
0.100 |
None |
|
0 |
|
|
|
Multiple glomerular cysts
|
phenotype |
|
Pathologic Function
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of Krebs cycle metabolism
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ragged-red muscle fibers
|
phenotype |
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Stroke-like episode
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Dysfunction, Left
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
88
|
|
0.100 |
None |
|
0 |
|
|
|
Hypothermia, natural
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Hemiparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
91
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hemianopsia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|