Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Post-Traumatic Stress Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
418
|
117
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2012 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2014 |
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Small anterior fontanelle
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cleft vertebral arch
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/hypoplasia of the femur
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bowed humerus
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irregular femoral epiphysis
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Broad distal phalanx of finger
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
|
|
|
Prominent occiput
|
phenotype |
|
Finding
|
53
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed proximal femoral epiphyseal ossification
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplastic clavicle
|
phenotype |
|
Congenital Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.100 |
None |
|
0 |
2
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|