Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the mitochondrion
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating renin level
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Renal sodium wasting
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Enuresis
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
111
|
14
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hyperaldosteronism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
84
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the cochlea
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Hypokalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
61
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypocalciuria
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.100 |
None |
|
0 |
|
|
|
Cochlear malformation
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
SeSAME syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
6
|
12
|
1.000 |
strong |
1.000 |
26 |
12
|
1997 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
81
|
0.600 |
strong |
1.000 |
2 |
2
|
1997 |
2009 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
1.000 |
12 |
3
|
2004 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.200 |
None |
1.000 |
11 |
3
|
2004 |
2018 |
Enlarged Vestibular Aqueduct
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
4
|
|
0.400 |
disputed |
1.000 |
3 |
|
2004 |
2009 |
Idiopathic generalized epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
24
|
0.020 |
None |
1.000 |
2 |
2
|
2005 |
2015 |