Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
2
Glycogen Storage Disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
63
16
0.300
limited
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
1
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0
Hyperbilirubinemia
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
131
27
0.100
None
0
Delayed speech and language development
phenotype
Behavior and Behavior Mechanisms
Finding
560
192
0.100
None
0
Cutis laxa, x-linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Congenital Abnormality
22
10
0.100
None
0
10
Decreased serum ceruloplasmin
phenotype
Finding
12
5
0.100
None
0
1
Reticulocytosis
phenotype
Pathological Conditions, Signs and Symptoms
Finding
40
1
0.100
None
0
Rhabdomyolysis
phenotype
Musculoskeletal Diseases
Pathologic Function
36
15
0.100
None
0
Muscle Weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
536
87
0.100
None
0
Migraine Disorders
group
Nervous System Diseases
Disease or Syndrome
512
264
0.100
None
0
Mood swings
disease
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
171
1
0.100
None
0
Myoglobinuria
phenotype
Musculoskeletal Diseases
Finding
17
1
0.100
None
0
Tremor
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
528
52
0.100
None
0
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Pallor
phenotype
Pathological Conditions, Signs and Symptoms
Finding
124
4
0.100
None
0
1
Retinal Dystrophies
group
Eye Diseases
Disease or Syndrome
219
227
0.100
None
0
Exercise-induced muscle fatigue
phenotype
Finding
18
3
0.100
None
0
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.100
None
0
1
Abnormality of hair texture
disease
Finding
15
1
0.100
None
0
1
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
1
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Exercise-induced muscle cramps
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
8
1
0.100
None
0
Severe failure to thrive
phenotype
Finding
14
4
0.100
None
0
1