Allan-Herndon-Dudley syndrome (AHDS)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
29
|
1.000 |
definitive |
1.000 |
58 |
29
|
2004 |
2020 |
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 |
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 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Decreased activity of the pyruvate dehydrogenase complex
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Severe psychomotor retardation
|
phenotype |
|
Mental or Behavioral Dysfunction
|
22
|
3
|
0.100 |
None |
1.000 |
17 |
|
2004 |
2019 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.180 |
None |
1.000 |
8 |
|
2006 |
2018 |
Thyroid Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
230
|
26
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2019 |
Hyperthyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
279
|
27
|
0.070 |
None |
0.857 |
7 |
|
2007 |
2018 |
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 |
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 |
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 |
Lesion of brain
|
group |
|
Disease or Syndrome
|
188
|
9
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
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 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2014 |
Thyrotoxicosis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
37
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
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 |
Floppy infant syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Papillary thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1348
|
204
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |