Sulfocysteinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
15
|
0.750 |
None |
1.000 |
12 |
15
|
1997 |
2020 |
Increased urinary sulfite
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased urinary sulfate
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Sulfite oxidase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.720 |
definitive |
1.000 |
10 |
|
1996 |
2019 |
Encephalomalacia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Generalized dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Combined molybdoflavoprotein enzyme deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2016 |
Spinocerebellar Degeneration
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Convulsions in the newborn
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
17
|
4
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
34
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
41
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Tongue Neoplasms
|
group |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
|
disease |
|
Finding
|
82
|
141
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
|
disease |
|
Disease or Syndrome
|
82
|
142
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
|
disease |
|
Disease or Syndrome
|
82
|
132
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Fatty Liver, Alcoholic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
94
|
6
|
0.200 |
None |
1.000 |
1 |
|
2004 |
2004 |
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|