Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
4 |
1
|
2003 |
2014 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.010 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ureteral obstruction
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
359
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sciatic Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
115
|
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Gastrointestinal dysfunction
|
phenotype |
Digestive System Diseases
|
Disease or Syndrome
|
16
|
6
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
4 |
1
|
2003 |
2014 |
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
|
disease |
|
Finding
|
1
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Increased serum serotonin
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Lack of spontaneous play
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Inflexible adherence to routines or rituals
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Lack of peer relationships
|
phenotype |
Mental Disorders
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.500 |
None |
1.000 |
27 |
1
|
2003 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.600 |
strong |
0.960 |
25 |
5
|
2003 |
2019 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.050 |
None |
0.800 |
5 |
1
|
2004 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
1
|
2006 |
2019 |