MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
disease
Disease or Syndrome
1
39
0.600
None
1.000
13
39
2012
2017
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.500
strong
1.000
13
1999
2019
Neurodevelopmental Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
535
14
0.320
None
1.000
4
2015
2018
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.310
None
1.000
2
2012
2018
Down Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
766
80
0.300
None
0.991
109
1996
2020
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.200
None
1.000
11
2
1997
2019
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.140
None
1.000
5
10
2002
2016
Hyperactive behavior
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
1263
112
0.130
None
0.667
3
2004
2019
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.120
None
1.000
3
16
2014
2015
Abnormal behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
910
121
0.110
None
1.000
1
1
2012
2012
Febrile Convulsions
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
192
65
0.110
None
1.000
1
2018
2018
Complete Trisomy 21 Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
669
77
0.100
None
0.990
100
1996
2020
Alzheimer's Disease
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
3397
1843
0.100
None
1.000
38
2005
2020
DOWN SYNDROME CRITICAL REGION
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
57
0.100
None
1.000
19
1996
2018
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
18
7
1990
2016
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
18
2
1990
2016
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.100
None
1.000
18
1997
2019
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
18
2
1990
2016
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.100
None
1.000
14
2001
2018
Cognition Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
607
47
0.100
None
1.000
12
2001
2018
Body mass index
phenotype
Clinical Attribute
1014
2689
0.100
None
1.000
2
1
2019
2019
Eosinophil count procedure
phenotype
Laboratory Procedure
610
1144
0.100
None
1.000
1
1
2019
2019