JOUBERT SYNDROME 6
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
48
|
0.900 |
None |
1.000 |
18 |
48
|
1977 |
2017 |
Meckel syndrome type 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
39
|
0.950 |
None |
1.000 |
16 |
39
|
1977 |
2019 |
COACH syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
38
|
0.740 |
None |
1.000 |
12 |
26
|
1977 |
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
|
0.680 |
None |
1.000 |
25 |
12
|
2002 |
2017 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
26
|
105
|
0.630 |
None |
1.000 |
23 |
12
|
2002 |
2019 |
NEPHRONOPHTHISIS 11
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.710 |
None |
1.000 |
7 |
6
|
1977 |
2015 |
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
1.000 |
1 |
6
|
2009 |
2009 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.430 |
None |
1.000 |
7 |
4
|
2006 |
2012 |
BARDET-BIEDL SYNDROME 14 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
17
|
0.600 |
None |
1.000 |
3 |
4
|
1977 |
2015 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
4
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
10 |
2
|
1999 |
2016 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
10 |
2
|
1999 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
2
|
1999 |
2016 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.320 |
None |
1.000 |
3 |
2
|
2006 |
2019 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.120 |
None |
1.000 |
2 |
2
|
2015 |
2018 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.100 |
None |
1.000 |
1 |
2
|
2006 |
2006 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
2
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
2
|
|
|
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
2
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
2
|
|
|
Barrel chest
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
18
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebellar malformation
|
disease |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
2
|
|
|