3-methylcrotonyl CoA carboxylase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
49
|
0.700 |
None |
1.000 |
17 |
49
|
2001 |
2016 |
Peroxisome Biogenesis Disorder, Complementation Group 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Discomfort
|
phenotype |
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
50
|
0.520 |
definitive |
1.000 |
7 |
|
2001 |
2016 |
Methylcrotonyl-CoA carboxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
1
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2012 |
Acute hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Organic aciduria
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
HYPERGLYCINURIA (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Propionic acidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
124
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
Abnormality of the cerebral vasculature
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Ketonuria
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Opisthotonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
32
|
2
|
0.100 |
None |
|
0 |
|
|
|
Seborrheic dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
8
|
0.100 |
None |
|
0 |
|
|
|
Chronic schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
48
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive in infancy
|
phenotype |
|
Finding
|
97
|
12
|
0.100 |
None |
|
0 |
|
|
|
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Schizoaffective Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
61
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|