Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|
Vertigo
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
173
|
35
|
0.100 |
None |
|
0 |
|
|
|
Tracheal Stenosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Renal potassium wasting
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glycosylphosphatidylinositol deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Cochlear malformation
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Polyuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
|
|
|
Renal salt wasting
|
phenotype |
|
Finding
|
22
|
|
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 |
1
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Compensated hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Hypokalemic metabolic alkalosis
|
disease |
|
Disease or Syndrome
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypomagnesemia, CTCAE
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Salt craving
|
phenotype |
Mental Disorders
|
Sign or Symptom
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating renin level
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|