Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
8 |
2
|
1996 |
2016 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital torticollis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Congenital Abnormality
|
19
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
3 |
6
|
2015 |
2015 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Chronic diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
8 |
1
|
1996 |
2016 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Facial hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
strong |
1.000 |
2 |
|
2015 |
2016 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |