Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
14 |
1
|
2014 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
14 |
1
|
2014 |
2018 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
24
|
0.700 |
definitive |
1.000 |
10 |
24
|
1993 |
2017 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.440 |
None |
1.000 |
4 |
2
|
2014 |
2019 |
Encephalopathy, Subacute Necrotizing, Infantile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
2 |
|
2014 |
2015 |
Encephalopathy, Subacute Necrotizing, Juvenile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
2 |
|
2014 |
2015 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CNS disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
319
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hepatitis A
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
451
|
27
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Leukomalacia, Periventricular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
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
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dyskinesias, Paroxysmal
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Overnutrition
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
54
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |