Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.600 |
limited |
1.000 |
4 |
|
1998 |
2016 |
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.500 |
strong |
1.000 |
3 |
4
|
2016 |
2019 |
Congenital Myasthenic Syndromes, Presynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Obstructive Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.200 |
None |
|
0 |
|
|
|
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
2 |
3
|
2019 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2010 |
2019 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Height
|
phenotype |
|
Organism Attribute
|
249
|
517
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Microretrognathia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Finding
|
53
|
6
|
0.100 |
None |
|
0 |
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
|
|
|
Easy fatigability
|
phenotype |
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
|
|
|
Central hypotonia
|
phenotype |
|
Finding
|
50
|
25
|
0.100 |
None |
|
0 |
|
|
|
Episodic respiratory distress
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Deformity of spine
|
disease |
|
Anatomical Abnormality
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|