Quadriparesis
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
42
5
0.100
None
0
GSD IV, Neuromuscular Form, Fatal Perinatal
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
1
0.300
None
0
Paresthesia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
121
8
0.100
None
0
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
phenotype
Finding
1
2
0.100
None
0
2
Abnormal upper motor neuron morphology
disease
Anatomical Abnormality
20
1
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Neurogenic Urinary Bladder
disease
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
Disease or Syndrome
43
9
0.100
None
0
Hepatosplenomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
Sign or Symptom
127
21
0.100
None
0
Hemiparesis
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
91
6
0.100
None
0
Reduced tendon reflexes
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
121
8
0.100
None
0
Spasticity, CTCAE
phenotype
Finding
477
0.100
None
0
Gait Disturbance, CTCAE
phenotype
Finding
299
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Esophageal Varices
disease
Digestive System Diseases
Disease or Syndrome
56
5
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Hydrops Fetalis
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
92
14
0.100
None
0
Portal Hypertension
disease
Digestive System Diseases
Disease or Syndrome
167
9
0.100
None
0
Extrapyramidal sign
phenotype
Sign or Symptom
116
7
0.100
None
0
Muscle Spasticity
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
580
48
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
phenotype
Finding
1
1
0.100
None
0
1
Polyhydramnios
phenotype
Female Urogenital Diseases and Pregnancy Complications
Pathologic Function
208
28
0.100
None
0
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
phenotype
Finding
1
2
0.100
None
0
2
ADULT POLYGLUCOSAN BODY NEUROPATHY
disease
Finding
1
5
0.100
None
0
5
Abnormality of metabolism/homeostasis
phenotype
Finding
171
5
0.100
None
0