Deafness, Autosomal Dominant 20
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
10
|
0.700 |
strong |
1.000 |
8 |
10
|
1996 |
2014 |
BARAITSER-WINTER SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
definitive |
1.000 |
5 |
9
|
1996 |
2016 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.430 |
strong |
1.000 |
4 |
2
|
1996 |
2009 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.410 |
strong |
1.000 |
2 |
|
1996 |
2014 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.410 |
strong |
1.000 |
2 |
|
1996 |
2014 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.410 |
None |
1.000 |
2 |
|
2012 |
2017 |
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.400 |
None |
1.000 |
1 |
|
2017 |
2017 |
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.400 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Fryns-Aftimos Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
1
|
0.380 |
strong |
1.000 |
8 |
|
2012 |
2017 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.330 |
definitive |
1.000 |
20 |
|
2003 |
2018 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
30
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Microphthalmia (in some patients)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Hypertelorism/telecanthus
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Eye coloboma (in some patients)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Pterygium colli (in some patients)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Cranioschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Heart defect (in some patients)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |