Deep palmar crease
|
phenotype |
|
Finding
|
23
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Decreased palmar creases
|
phenotype |
|
Finding
|
6
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
2
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Gastrostomy tube feeding in infancy
|
phenotype |
|
Finding
|
38
|
19
|
0.100 |
None |
|
0 |
2
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
2
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
2
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
2
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hallux Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
61
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
11
|
0.710 |
None |
1.000 |
8 |
11
|
1990 |
2018 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.120 |
None |
1.000 |
12 |
2
|
2005 |
2019 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.090 |
None |
1.000 |
9 |
2
|
2007 |
2019 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.080 |
None |
1.000 |
8 |
|
2011 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.350 |
None |
1.000 |
5 |
1
|
2012 |
2019 |
Opsoclonus-Myoclonus Syndrome
|
disease |
Neoplasms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Secondary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1370
|
20
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |