SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.710 |
strong |
1.000 |
4 |
3
|
2015 |
2019 |
De Barsy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
12
|
0.700 |
None |
1.000 |
12 |
12
|
2000 |
2018 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2015 |
2018 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
None |
1.000 |
7 |
3
|
2008 |
2018 |
Cutis Laxa, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
3
|
0.510 |
None |
1.000 |
2 |
2
|
2015 |
2017 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.140 |
None |
1.000 |
4 |
1
|
2011 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.120 |
None |
1.000 |
2 |
1
|
2000 |
2008 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of the spinal cord
|
disease |
|
Disease or Syndrome
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Dysfunction of lateral corticospinal tracts
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
Bowel diverticulosis
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia in upper limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
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 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Narrow nasal ridge
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Progressive inability to walk
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|