Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cerebellar atrophy, progressive
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Atrophy of corpus callosum
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebellar atrophy
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Limitation of joint mobility
|
phenotype |
|
Finding
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic hyperhidrosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|