Alternating hemiplegia of childhood
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
8
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Macrodontia of permanent maxillary central incisor
|
phenotype |
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of digit
|
phenotype |
|
Anatomical Abnormality
|
9
|
9
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
Delayed eruption of permanent teeth
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Broad alveolar ridges
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Lumbar scoliosis
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Profound sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy, Myoclonic, Infantile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
6
|
0.760 |
strong |
1.000 |
9 |
6
|
2010 |
2017 |
Sirenomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
30
|
0.100 |
None |
1.000 |
4 |
6
|
2014 |
2017 |
Wide nasal base
|
phenotype |
|
Finding
|
12
|
3
|
0.100 |
None |
|
0 |
|
|
|
Toenail dysplasia
|
phenotype |
|
Finding
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gonadal dysgenesis XX type deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
14
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Progressive hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Photosensitive tonic-clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Epilepsia Partialis Continua
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital nystagmus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
15
|
5
|
0.100 |
None |
|
0 |
|
|
|
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diffuse cerebellar atrophy
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cutaneous syndactyly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nicolaides Baraitser syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
18
|
38
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
periodic paralysis (finding)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
|
0 |
1
|
|
|