Tietz syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
5
|
0.940 |
None |
1.000 |
5 |
5
|
1967 |
2016 |
Poliosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
1
|
0.800 |
definitive |
1.000 |
0 |
1
|
1994 |
2019 |
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.710 |
None |
1.000 |
0 |
4
|
1994 |
2016 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
2
|
4
|
0.700 |
strong |
0.971 |
12 |
2
|
1994 |
2020 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
disease |
|
Finding
|
2
|
2
|
0.700 |
None |
1.000 |
11 |
1
|
2011 |
2019 |
Waardenburg Syndrome Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
2
|
42
|
0.300 |
None |
|
0 |
1
|
|
|
WAARDENBURG SYNDROME, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
24
|
1.000 |
None |
1.000 |
6 |
20
|
1967 |
2019 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
6
|
0.160 |
None |
1.000 |
0 |
1
|
1998 |
2019 |
Premature canities
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Prelingual sensorineural hearing impairment
|
disease |
|
Disease or Syndrome
|
4
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Mild microcephaly
|
phenotype |
|
Finding
|
5
|
5
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
6
|
6
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Narrow face
|
phenotype |
|
Finding
|
6
|
6
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Heterochromia iridis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
7
|
10
|
0.100 |
None |
|
0 |
4
|
|
|
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
9
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
18
|
61
|
0.100 |
None |
|
0 |
1
|
|
|
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
21
|
25
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Anteverted nostril
|
phenotype |
|
Finding
|
30
|
35
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
39
|
51
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
40
|
49
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
67
|
6385
|
0.100 |
None |
1.000 |
22 |
1
|
1987 |
2016 |
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
74
|
93
|
0.100 |
None |
1.000 |
4 |
1
|
2011 |
2016 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
88
|
257
|
0.100 |
None |
|
0 |
4
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
124
|
192
|
0.100 |
None |
|
0 |
1
|
|
|