Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2017 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Superinfection
|
group |
Infections
|
Disease or Syndrome
|
85
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Subependymal cysts
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.100 |
None |
|
0 |
|
|
|
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Secondary malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
951
|
34
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
3 |
8
|
1997 |
2015 |
Pyruvate Dehydrogenase E1 Alpha Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
4
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2016 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.030 |
None |
0.667 |
3 |
|
2005 |
2015 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.030 |
None |
0.667 |
3 |
|
1999 |
2000 |
Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
39
|
134
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
PATENT DUCTUS ARTERIOSUS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
229
|
12
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2019 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2019 |
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pancreatitis, Chronic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
379
|
56
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2015 |
Pancreatic Neoplasm
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
764
|
20
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Pancreatic intraepithelial neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
186
|
11
|
0.040 |
None |
0.750 |
4 |
|
2015 |
2018 |
Pancreatic Ductal Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
970
|
22
|
0.050 |
None |
1.000 |
5 |
|
2004 |
2019 |