ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
|
disease |
|
Disease or Syndrome
|
1
|
38
|
0.610 |
strong |
1.000 |
14 |
38
|
2004 |
2017 |
Neurological decompensation
|
phenotype |
|
Sign or Symptom
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Episodic generalized hypotonia
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
CAPOS syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
11
|
0.800 |
strong |
1.000 |
19 |
11
|
2012 |
2019 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.300 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Episodic quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Maternal seizures
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Hemiplegia, Crossed
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.020 |
None |
1.000 |
2 |
2
|
2014 |
2017 |
Severe nonproliferative diabetic retinopathy
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Tooth absent
|
phenotype |
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
INJECTED EYE
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cavovarus deformity of foot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Anatomical Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
14
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mixed bipolar I disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
7
|
|
0.200 |
None |
|
0 |
|
|
|
Alternating hemiplegia of childhood
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
8
|
4
|
0.900 |
None |
0.977 |
44 |
4
|
2009 |
2019 |
Young adult onset
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
DYSTONIA 12
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
25
|
0.800 |
None |
0.982 |
55 |
25
|
2004 |
2019 |
Disorder characterized by fever
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Oculogyric crisis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
9
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Abnormality of earlobe
|
disease |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Hemiplegic migraine
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
10
|
14
|
0.010 |
None |
1.000 |
1 |
3
|
2015 |
2015 |
Retinoschisis, Juvenile, X-Linked
|
disease |
Eye Diseases
|
Disease or Syndrome
|
10
|
16
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Abnormal posture
|
phenotype |
Nervous System Diseases
|
Finding
|
13
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Dystonia, Diurnal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |