Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.100 |
None |
|
0 |
|
|
|
Varicosity
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
188
|
51
|
0.100 |
None |
|
0 |
|
|
|
Congenital nystagmus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
15
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Familial multiple trichoepitheliomata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
317
|
32
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2019 |
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.710 |
None |
1.000 |
4 |
1
|
2008 |
2019 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
13
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
X-linked hereditary motor and sensory neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Leukodystrophy, Hypomyelinating, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
14
|
0.930 |
None |
1.000 |
11 |
12
|
2004 |
2019 |
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
0.090 |
None |
1.000 |
9 |
|
2006 |
2018 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.180 |
None |
1.000 |
8 |
|
2010 |
2019 |
Canavan Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
65
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Barrett Esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
478
|
60
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2012 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Rotary Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pendular Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
25
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Milroy Disease
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
52
|
18
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2011 |
Lymphedema praecox
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Lymphedema
|
disease |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
61
|
1
|
0.100 |
None |
|
0 |
|
|
|
Predominantly lower limb lymphedema
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|