EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.610 |
None |
1.000 |
2 |
6
|
2010 |
2018 |
Early myoclonic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
10
|
7
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormality of skin morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital heart block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
20
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
1998 |
1998 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neonatal Systemic lupus erythematosus
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Atrophy/Degeneration affecting the brainstem
|
disease |
|
Disease or Syndrome
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
32
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Degenerative Diseases, Spinal Cord
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Degenerative Diseases, Central Nervous System
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
81
|
0.100 |
None |
1.000 |
1 |
5
|
2018 |
2018 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Peripheral motor neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
64
|
20
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Migraine with Aura
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
87
|
56
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Moyamoya disease 1
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
92
|
50
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
|
0 |
|
|
|
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
117
|
50
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Myoclonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
123
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |