NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
strong |
1.000 |
1 |
1
|
2017 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.350 |
None |
1.000 |
6 |
|
2006 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.350 |
None |
1.000 |
5 |
|
2012 |
2019 |
Benign Neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
371
|
7
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
3 |
1
|
2014 |
2017 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Exaggerated cupid's bow
|
phenotype |
|
Finding
|
11
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
1
|
|
|
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Webbed penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Secondary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
13
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|