MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
21
|
0.700 |
strong |
1.000 |
9 |
21
|
2010 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.700 |
strong |
1.000 |
4 |
12
|
2014 |
2017 |
Cerebellitis
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ovarian Reserve
|
phenotype |
|
Organ or Tissue Function
|
2
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Pain worsened
|
phenotype |
|
Sign or Symptom
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Glaucomatous retinal degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pain in spine
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Allergy to eggs
|
phenotype |
Immune System Diseases
|
Disease or Syndrome
|
13
|
3
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Catatonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sleep Deprivation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Finding
|
14
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Monoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
14
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Early onset schizophrenia
|
disease |
|
Mental or Behavioral Dysfunction
|
15
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Myoclonic Astatic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
|
|
Meleda Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
18
|
15
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypoalgesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Poor coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
26
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Mechanical pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
30
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Range of joint movement increased
|
phenotype |
|
Finding
|
30
|
46
|
0.100 |
None |
|
0 |
1
|
|
|
Minimal hepatic encephalopathy
|
disease |
|
Disease or Syndrome
|
31
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Central Nervous System Sensitization
|
disease |
|
Disease or Syndrome
|
32
|
1
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
RETINITIS PIGMENTOSA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
32
|
21
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Long fingers
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Neuropsychiatric Systemic Lupus Erythematosus
|
disease |
Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
33
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Developmental reading disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
33
|
32
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |