Severe psychomotor retardation
|
phenotype |
|
Mental or Behavioral Dysfunction
|
22
|
3
|
0.100 |
None |
1.000 |
17 |
|
2004 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
15 |
1
|
1990 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
15 |
1
|
1990 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
15 |
1
|
1990 |
2016 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.180 |
None |
1.000 |
8 |
|
2006 |
2018 |
Hyperthyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
279
|
27
|
0.070 |
None |
0.857 |
7 |
|
2007 |
2018 |
Thyroid Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
230
|
26
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2019 |
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.060 |
None |
1.000 |
6 |
|
2007 |
2018 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.150 |
None |
1.000 |
5 |
|
2006 |
2017 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.140 |
None |
1.000 |
4 |
1
|
2006 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2015 |
Lesion of brain
|
group |
|
Disease or Syndrome
|
188
|
9
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
Thyroid Hormone Resistance Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2011 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2010 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2015 |
Thyrotoxicosis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
37
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2014 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.020 |
None |
0.500 |
2 |
|
2006 |
2014 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Papillary thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1348
|
204
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Impaired psychomotor development
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Motor Disorders
|
group |
Mental Disorders
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |