MEGALENCEPHALY, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
6
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Macular hypopigmented whorls, streaks, and patches
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Focal white matter lesions
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hemiparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
91
|
6
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Focal seizures, afebril
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Astrocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperextensibility at elbow
|
phenotype |
|
Anatomical Abnormality
|
11
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Deep palmar crease
|
phenotype |
|
Finding
|
23
|
8
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Diastasis recti
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Intestinal Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
48
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
EEG with generalized slow activity
|
phenotype |
|
Finding
|
8
|
6
|
0.100 |
None |
|
0 |
1
|
|
|