EMG: neuropathic changes
phenotype
Finding
28
5
0.100
None
0
Distal peripheral sensory neuropathy
disease
Disease or Syndrome
6
0.100
None
0
Visual field defects
group
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
47
1
0.100
None
0
Recurrent fevers
phenotype
Sign or Symptom
48
4
0.100
None
0
Visual Impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
422
0.100
None
0
Retrognathia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Anatomical Abnormality
191
11
0.100
None
0
Respiratory Failure
disease
Respiratory Tract Diseases
Disease or Syndrome
319
23
0.100
None
0
Arthrogryposis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.100
None
0
Talipes cavus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Anatomical Abnormality
213
2
0.100
None
0
Spastic Paraplegia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
144
93
0.100
None
0
Relapsing Fever
disease
Infections
Disease or Syndrome
48
2
0.100
None
0
Babinski Reflex
phenotype
Finding
218
11
0.100
None
0
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
0.100
None
0
Nystagmus
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
833
95
0.100
None
0
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.100
None
0
Irritable Mood
phenotype
Behavior and Behavior Mechanisms
Finding
142
1
0.100
None
0
Polyhydramnios
phenotype
Female Urogenital Diseases and Pregnancy Complications
Pathologic Function
208
28
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Hyperreflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
539
19
0.100
None
0
Metabolic acidosis
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
85
0.100
None
0
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Difficulty walking
phenotype
Pathological Conditions, Signs and Symptoms
Finding
224
30
0.100
None
0
Hypoplasia of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
385
49
0.100
None
0
Spastic Quadriplegia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
86
7
0.100
None
0