Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Cogwheel Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Spastic gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
< 0.001 |
1 |
|
1991 |
1991 |
Long QT Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
105
|
349
|
0.050 |
None |
1.000 |
5 |
|
1997 |
2007 |
Long QT Syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
240
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1998 |
Romano-Ward Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
17
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Congenital long QT syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
54
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2005 |
Torsades de Pointes
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
51
|
14
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2017 |
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Sudden infant death syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
140
|
68
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.300 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |