Waardenburg Syndrome, Type 4b
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
1
|
9
|
0.900 |
moderate |
1.000 |
13 |
9
|
1994 |
2017 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
|
disease |
|
Finding
|
1
|
3
|
0.600 |
strong |
1.000 |
2 |
3
|
1998 |
2009 |
Spotty hypopigmentation
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
CCHS WITH HIRSCHSPRUNG DISEASE
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
7
|
1
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
White eyebrow
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Olfactory lobe agenesis
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
White eyelashes
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Megacolon
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
9
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Hypercapnia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
12
|
11
|
0.560 |
None |
1.000 |
8 |
|
1996 |
2011 |
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Aganglionosis, Rectosigmoid Colon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
4 |
|
1996 |
1998 |
Central hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Heterochromia iridis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
17
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Intestinal Aganglionosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
18
|
16
|
0.300 |
None |
1.000 |
4 |
|
1996 |
1998 |
Abnormality of temperature regulation
|
phenotype |
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
21
|
8
|
0.540 |
strong |
1.000 |
6 |
|
1996 |
2020 |
Mouth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
blue iris (physical finding)
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital central hypoventilation
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
15
|
0.600 |
None |
1.000 |
2 |
|
1996 |
1998 |
Abnormal macular morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Anatomical Abnormality
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Aganglionosis, Colonic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
36
|
11
|
0.520 |
strong |
1.000 |
7 |
|
1996 |
2009 |