Acrocyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
5
|
0.100 |
None |
|
0 |
|
|
|
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Peeling of skin
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma of childhood
|
disease |
Eye Diseases
|
Disease or Syndrome
|
30
|
15
|
0.100 |
None |
|
0 |
|
|
|
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cutis marmorata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
80
|
9
|
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 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|
Acquired porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal muscular rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
|
|
|