HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.700 |
strong |
1.000 |
8 |
11
|
2008 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |
Floppy infant syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.020 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
1 |
1
|
2016 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Juvenile angiofibroma
|
disease |
Neoplasms; Cardiovascular Diseases
|
Neoplastic Process
|
44
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Angiofibroma
|
disease |
Neoplasms
|
Neoplastic Process
|
45
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Malignant neoplasm of kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
664
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Renal carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
665
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.300 |
None |
|
0 |
|
|
|
Adenocarcinoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
543
|
432
|
0.300 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
1
|
|
|
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
1
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
|
|
|