SIFRIM-HITZ-WEISS SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
2 |
7
|
2016 |
2016 |
Cellular Schwannoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Gatad2b associated neurodevelopmental disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Vascular rupture
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Flat acetabular roof
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Child Development Deviations
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Child Development Disorders, Specific
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
30
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Short femoral neck
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Arnold Chiari Malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
53
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gait imbalance
|
phenotype |
|
Finding
|
57
|
24
|
0.100 |
None |
|
0 |
|
|
|
Childhood Alveolar Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
59
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adult Malignant Peripheral Nerve Sheath Tumor
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Malignant Peripheral Nerve Sheath Tumor
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic Inflammatory Myopathies
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
106
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Alveolar rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
115
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
187
|
23
|
0.100 |
None |
|
0 |
|
|
|