Abnormality of brainstem morphology
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
|
|
|
Adult Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
|
|
|
Axonal degeneration
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Corneal stromal opacities
|
phenotype |
Eye Diseases
|
Finding
|
46
|
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment of all modalities
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|