Leukodystrophy, Dysmyelinating, with Oligodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Increased subcutaneous truncal adipose tissue
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cervical Vertebral Dysplasia
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Atlantoaxial abnormality
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Increased estradiol level
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular sclerotic endplates
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital malformation of the left heart
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
High myoinositol in brain by MRS
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Wiedemann-Rautenstrauch syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
3
|
23
|
0.720 |
strong |
1.000 |
4 |
23
|
2016 |
2018 |
Caliectasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Thin long bone diaphyses
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Dysplastic pulmonary valve
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy, Hypomyelinating, 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Wide nasal ridge
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Wide penis
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Lagopthalmos
|
disease |
|
Disease or Syndrome
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.750 |
None |
1.000 |
15 |
17
|
1977 |
2018 |
Abnormality of ocular smooth pursuit
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal corpus striatum morphology
|
phenotype |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Autonomic bladder dysfunction
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased serum testosterone level
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Loss of facial adipose tissue
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent scalp veins
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Parietal bossing
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Impaired distal proprioception
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|