Short 5th finger
|
disease |
|
Congenital Abnormality
|
18
|
3
|
0.100 |
None |
|
0 |
|
|
|
Absent fingernail
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed fine motor development
|
phenotype |
|
Finding
|
19
|
13
|
0.100 |
None |
|
0 |
|
|
|
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized neonatal hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Writer's Cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
3
|
0.100 |
None |
|
0 |
|
|
|
Auditory neuropathy spectrum disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
17
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dystonia, Paroxysmal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
28
|
4
|
0.100 |
None |
|
0 |
|
|
|
ANONYCHIA
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aspiration Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Adrenal hyperplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebral atrophy
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Finding
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pendred's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
142
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arhinencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
|
|
|
Epileptic Syndromes
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
2
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
81
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Excessive daytime sleepiness
|
phenotype |
|
Sign or Symptom
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|