MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
8
|
0.600 |
strong |
1.000 |
3 |
8
|
2014 |
2018 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
2
|
2004 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
7 |
1
|
2004 |
2017 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Malignant Childhood Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
179
|
34
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Foot Deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
66
|
5
|
0.100 |
None |
|
0 |
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal muscle tone
|
phenotype |
Nervous System Diseases
|
Finding
|
14
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Overgrowth Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
36
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chronic Lymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1447
|
291
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myeloid Leukemia, Chronic
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1172
|
115
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |