Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.100 |
None |
|
0 |
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Reduced dihydropyrimidine dehydrogenase activity
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
End stage cardiac failure
|
disease |
|
Disease or Syndrome
|
76
|
2
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Sarcoma, Yoshida
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
6
|
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Hypokalemic periodic paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
19
|
0.090 |
None |
1.000 |
9 |
|
1994 |
1999 |
Hypokalemic periodic paralysis type 1
|
disease |
|
Disease or Syndrome
|
12
|
24
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.200 |
None |
1.000 |
1 |
|
1999 |
1999 |
Epithelial ovarian cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
1224
|
129
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Undifferentiated carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
283
|
8
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
63
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Malignant Squamous Cell Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
193
|
12
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |