MAST SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
2
|
3
|
0.740 |
None |
1.000 |
6 |
3
|
2003 |
2017 |
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
577
|
441
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2018 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.300 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Abnormality of peripheral nerve conduction
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dysgraphia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
43
|
2
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflexes (palmomental, snout, glabellar)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Frontotemporal cerebral atrophy
|
disease |
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
0.100 |
None |
|
0 |
|
|
|
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
|
0 |
|
|
|