CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
8 |
6
|
2016 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.360 |
None |
1.000 |
6 |
2
|
2016 |
2019 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.310 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Charcot-Marie-Tooth Disease, Type Ib
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
12
|
51
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hereditary Motor and Sensory Neuropathy Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
84
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2016 |
2017 |
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Unable to concentrate
|
phenotype |
Mental Disorders
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperplasia of midface
|
disease |
|
Anatomical Abnormality
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
High pitched voice
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glabellar hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
6
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Cutis marmorata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
80
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Overriding toe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
47
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Easy fatigability
|
phenotype |
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Myokymia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
15
|
2
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Chronic constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
47
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Soft, doughy skin
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
1
|
|
|