Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Clonus
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
60
4
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
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
Muscle Weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
536
87
0.100
None
0
Waddling gait
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
113
8
0.100
None
0
Pyramidal sign
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
155
10
0.100
None
0
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Oligohydramnios
phenotype
Female Urogenital Diseases and Pregnancy Complications
Pathologic Function
129
21
0.100
None
0
Joint laxity
phenotype
Musculoskeletal Diseases
Pathologic Function
224
15
0.100
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.120
None
1.000
2
2015
2017
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.010
None
1.000
1
2017
2017
Mild Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
340
56
0.100
None
0
Severe intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
429
74
0.100
None
0
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Muscle Hypertonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
197
21
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Electroencephalogram abnormal
phenotype
Nervous System Diseases
Finding
227
27
0.100
None
0
Proximal muscle weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
112
11
0.100
None
0
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
0
Gowers sign
phenotype
Finding
54
8
0.100
None
0
Reduced fetal movement
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Finding
169
17
0.100
None
0
Difficulty walking up stairs
phenotype
Pathological Conditions, Signs and Symptoms
Finding
51
7
0.100
None
0