Glycosuria
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
53
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Renal tubular disorder
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|
Mood swings
|
disease |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
171
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2003 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
52
|
3
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |