Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.200 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Membranous glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
197
|
33
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
391
|
7
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Renal vasculitis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Primary immunoglobulin A nephropathy (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Myotonia Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
38
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2006 |
Generalized Myotonia of Thomsen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
61
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2006 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
862
|
115
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2012 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
296
|
40
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.050 |
None |
1.000 |
5 |
|
2006 |
2019 |
Spinocerebellar Ataxia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
102
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar Ataxia Type 6 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
64
|
11
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar Ataxia Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
7
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar Ataxia Type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar Ataxia Type 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
78
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar Ataxia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
76
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Sarcoma
|
group |
Neoplasms
|
Neoplastic Process
|
853
|
42
|
0.400 |
None |
0.974 |
38 |
|
2009 |
2020 |
Malignant neoplasm of soft tissue
|
group |
Neoplasms
|
Neoplastic Process
|
699
|
32
|
0.100 |
None |
0.972 |
36 |
|
2009 |
2020 |