Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
2
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
2
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
1
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
2
|
|
|
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of skin morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
2
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
1
|
|
|
Failure to thrive in infancy
|
phenotype |
|
Finding
|
97
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.100 |
None |
|
0 |
1
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
1
|
|
|
Drug-induced tardive dyskinesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
94
|
67
|
0.020 |
None |
0.500 |
2 |
1
|
2007 |
2012 |
Tardive Dyskinesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
67
|
0.020 |
None |
0.500 |
2 |
1
|
2007 |
2012 |
Epileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
250
|
7
|
0.020 |
None |
0.500 |
2 |
|
2017 |
2018 |