LEUKODYSTROPHY, HYPOMYELINATING, 12
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2015 |
2016 |
Elevated maternal serum alpha-fetoprotein
|
phenotype |
|
Laboratory or Test Result
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Oromotor apraxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Temperature instability
|
phenotype |
|
Finding
|
12
|
8
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic quadriplegia
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental stagnation
|
phenotype |
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Borderline intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
16
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Lower limb hypertonia
|
phenotype |
|
Finding
|
21
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal dysmotility
|
phenotype |
|
Finding
|
28
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
|
0 |
|
|
|
Diffuse white matter abnormalities
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
34
|
4
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of aortic root
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
39
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Neurogenic Urinary Bladder
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
43
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Central hypotonia
|
phenotype |
|
Finding
|
50
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
129
|
5
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
1
|
|
|