EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
None |
1.000 |
2 |
3
|
2015 |
2017 |
Abnormal sternal ossification
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Malrotation of small bowel
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with irregular generalized spike and wave complexes
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pitt-Rogers-Danks Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
|
0 |
|
|
|
Periventricular cysts
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses of the metacarpals
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy, Myoclonic, Infantile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
6
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperconvex fingernails
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short upper lip
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rib segmentation abnormalities
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Rieger eye malformation sequence
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Psychosis, Brief Reactive
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital ectopic pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Photosensitive tonic-clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Prominent glabella
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neuro-Behcet disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Craniofacial asymmetry
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Persistent cavum septum pellucidum
|
phenotype |
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed fine motor development
|
phenotype |
|
Finding
|
19
|
13
|
0.100 |
None |
|
0 |
|
|
|
Schizophreniform Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
20
|
1
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Rieger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
23
|
7
|
0.100 |
None |
|
0 |
|
|
|
Stenosis of external auditory canal
|
disease |
|
Disease or Syndrome
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Severe postnatal growth retardation
|
phenotype |
|
Finding
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Wolf-Hirschhorn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
34
|
2
|
0.300 |
None |
|
0 |
|
|
|