Stuttering, Familial Persistent 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
16
|
0.600 |
None |
1.000 |
1 |
16
|
2015 |
2015 |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
3
|
1
|
0.610 |
None |
1.000 |
3 |
1
|
2011 |
2019 |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
3
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Severe intellectual disability and progressive spastic paraplegia
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2011 |
Prominent antihelix
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Shyness
|
phenotype |
Behavior and Behavior Mechanisms
|
Social Behavior
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Everted upper lip vermilion
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Stuttering, Developmental
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Acquired genu recurvatum
|
phenotype |
Musculoskeletal Diseases
|
Acquired Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital genu recurvatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Long nose
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Genu recurvatum
|
disease |
|
Anatomical Abnormality
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Facial hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Stuttering
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
34
|
8
|
0.110 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Generalized joint laxity
|
phenotype |
|
Finding
|
44
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Amblyopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
29
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|