Drooling
|
phenotype |
Stomatognathic Diseases
|
Finding
|
95
|
14
|
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 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
|
0 |
|
|
|
Gynecomastia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Impaired horizontal smooth pursuit
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse axillary hair
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse pubic hair
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebellar hypoplasia with endosteal sclerosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
2 |
2
|
2005 |
2017 |
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
|
disease |
|
Disease or Syndrome
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.200 |
None |
0.875 |
16 |
1
|
2011 |
2019 |
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
|
disease |
|
Disease or Syndrome
|
1
|
14
|
0.600 |
strong |
1.000 |
5 |
14
|
2011 |
2015 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
20
|
0.730 |
strong |
1.000 |
5 |
3
|
2011 |
2018 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.140 |
None |
0.750 |
4 |
|
2013 |
2015 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.040 |
None |
0.750 |
4 |
|
2013 |
2015 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.130 |
None |
0.667 |
3 |
|
2013 |
2015 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |