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
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chorioretinal dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
8
|
0.750 |
None |
1.000 |
7 |
8
|
2013 |
2019 |
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Personality Change
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
43
|
6
|
0.100 |
None |
|
0 |
|
|
|
McCune-Albright Syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
45
|
10
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Decreased fertility
|
phenotype |
|
Finding
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
X-linked agammaglobulinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
68
|
69
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.100 |
None |
|
0 |
1
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gynecomastia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Infertility
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
130
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|