Hypergalactosemia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.100 |
None |
|
0 |
|
|
|
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.100 |
None |
|
0 |
|
|
|
Increased level of galactonate in red blood cells
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased fertility in females
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Increased level of galactitol in plasma
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.100 |
None |
|
0 |
|
|
|
Increased level of galactitol in urine
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Classical galactosemia, homozygous Duarte-type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Galactosuria
|
phenotype |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperchloremic metabolic acidosis
|
phenotype |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Speech articulation difficulties
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ovary
|
disease |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Impairment of galactose metabolism
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
27
|
10
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|