Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Reduced concentration span
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
77
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global brain atrophy
|
phenotype |
|
Pathologic Function
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Personality Change
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
43
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hip stiff
|
phenotype |
|
Sign or Symptom
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Tremor, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
20
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Talipes Calcaneovalgus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the pyramidal tract
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Profound global developmental delay
|
disease |
|
Disease or Syndrome
|
58
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive extrapyramidal movement disorder
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar cortical atrophy
|
disease |
|
Disease or Syndrome
|
9
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
|
0 |
|
|
|
Generalized cerebral atrophy/hypoplasia
|
disease |
|
Disease or Syndrome
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
EMG: chronic denervation signs
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Proportionate shortening of all digits
|
phenotype |
|
Congenital Abnormality
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Iron accumulation in globus pallidus
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|