Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
13
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Small Fiber Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
35
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.110 |
None |
1.000 |
1 |
3
|
2003 |
2003 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Claw hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
63
|
3
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Deformity of spine
|
disease |
|
Anatomical Abnormality
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Ulnar claw
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Polysomnography
|
phenotype |
|
Diagnostic Procedure
|
119
|
249
|
0.100 |
None |
1.000 |
1 |
3
|
2007 |
2007 |