JOUBERT SYNDROME 23
|
disease |
|
Disease or Syndrome
|
1
|
21
|
0.610 |
None |
1.000 |
9 |
21
|
2015 |
2017 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.670 |
None |
1.000 |
8 |
2
|
2015 |
2019 |
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.400 |
None |
1.000 |
7 |
12
|
2015 |
2017 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.070 |
None |
1.000 |
7 |
|
2015 |
2019 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.510 |
None |
1.000 |
3 |
|
2004 |
2015 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.320 |
None |
1.000 |
2 |
|
2015 |
2015 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
254
|
56
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
JOUBERT SYNDROME 17
|
disease |
|
Disease or Syndrome
|
5
|
65
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
31
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dextrocardia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
30
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Duane Retraction Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.100 |
None |
|
0 |
|
|
|
Occipital Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.100 |
None |
|
0 |
|
|
|