Decreased nerve conduction velocity
phenotype
Finding
58
5
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Death in infancy
phenotype
Finding
146
7
0.100
None
0
Prolonged neonatal jaundice
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Finding
59
14
0.100
None
0
Variable expressivity
phenotype
Finding
319
0.100
None
0
Abnormal nerve conduction velocity
phenotype
Finding
5
0.100
None
0
Nystagmus, CTCAE 3.0
phenotype
Finding
779
0.100
None
0
Skeletal muscle hypertrophy
phenotype
Organ or Tissue Function
21
2
0.100
None
0
Nystagmus, CTCAE 5.0
phenotype
Finding
779
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
Quadriplegia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
57
3
0.100
None
0
Clonus
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
60
4
0.100
None
0
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Kyphosis deformity of spine
phenotype
Musculoskeletal Diseases
Anatomical Abnormality
305
10
0.100
None
0
Scoliosis, unspecified
disease
Musculoskeletal Diseases
Disease or Syndrome
850
135
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Talipes cavus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Anatomical Abnormality
213
2
0.100
None
0
Tremor
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
528
52
0.100
None
0
Deglutition Disorders
group
Digestive System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
389
50
0.100
None
0
Nystagmus
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
833
95
0.100
None
0
Exotropia
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
78
23
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
0
Abnormal vision
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
115
6
0.100
None
0
Orbital separation excessive
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Finding
590
77
0.100
None
0