Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
25 |
2
|
1983 |
2017 |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
16
|
0.700 |
strong |
1.000 |
11 |
16
|
2011 |
2017 |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
3 |
2
|
2013 |
2017 |
Hippocampal sclerosis
|
disease |
|
Disease or Syndrome
|
84
|
14
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Psychiatric symptom
|
phenotype |
|
Sign or Symptom
|
95
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
mass lesion
|
phenotype |
|
Neoplastic Process
|
15
|
2
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Bilateral polymicrogyria
|
disease |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Expressive language delay
|
phenotype |
|
Disease or Syndrome
|
30
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2019 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Impulsive Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
276
|
69
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Stress, Psychological
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
199
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
421
|
120
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Delusion of persecution
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
4
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
91
|
9
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
1
|
|
|
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |