Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2012 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.410 |
None |
1.000 |
1 |
|
2019 |
2019 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Sarcoidosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
413
|
787
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.400 |
None |
1.000 |
1 |
|
2019 |
2019 |
Human immunodeficiency virus (HIV) II infection category B1
|
disease |
|
Disease or Syndrome
|
985
|
56
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Acute Febrile Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Hyponatremia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
109
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent encephalopathy
|
phenotype |
Nervous System Diseases
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.100 |
None |
|
0 |
1
|
|
|