CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
|
disease |
|
Disease or Syndrome
|
1
|
14
|
0.900 |
None |
1.000 |
5 |
14
|
2009 |
2016 |
Other reduction deformities of brain
|
disease |
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Persistent cavum septum pellucidum
|
phenotype |
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dilation of lateral ventricles
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal caudate nucleus morphology
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
|
|
|
Dysgenesis of the basal ganglia
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
1
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal temper tantrums
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2019 |
Congenital absence of part of brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital hypoplasia of part of brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|