HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.700 |
None |
1.000 |
3 |
12
|
2017 |
2017 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.130 |
None |
0.667 |
3 |
1
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
3 |
2
|
2017 |
2017 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
8 |
1
|
2009 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
8 |
1
|
2009 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
8 |
1
|
2009 |
2017 |
Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
39
|
3
|
0.100 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormal palmar creases
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Impaired pain sensation
|
phenotype |
|
Finding
|
41
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Oligohydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
192
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Overfolding of the superior helices
|
phenotype |
|
Finding
|
10
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Small labia majora
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |