Gait, Drop Foot
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
51
5
0.100
None
0
Congenital absence of kidneys syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
110
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
Cerebral ventriculomegaly
phenotype
Nervous System Diseases
Finding
410
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Increased CSF lactate
phenotype
Finding
87
1
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Spasticity, CTCAE
phenotype
Finding
477
0.100
None
0
Nystagmus, CTCAE 5.0
phenotype
Finding
779
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
847
94
0.100
None
0
Frequent falls
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
94
4
0.100
None
0
Renal tubular acidosis
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
52
3
0.100
None
0
Abnormal globus pallidus morphology
disease
Anatomical Abnormality
10
0.100
None
0
Abnormality of the cerebral cortex
disease
Anatomical Abnormality
11
8
0.100
None
0
EMG: chronic denervation signs
phenotype
Finding
18
0.100
None
0
Increased serum lactate
phenotype
Nutritional and Metabolic Diseases
Finding
169
2
0.100
None
0
Central hypoventilation
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
16
1
0.100
None
0
Dyskinetic syndrome
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
316
42
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Muscle Weakness Lower Limb
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
74
15
0.100
None
0
Deglutition Disorders
group
Digestive System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
389
50
0.100
None
0
Renal dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
95
3
0.100
None
0
Abnormality of thalamus morphology
disease
Anatomical Abnormality
10
0.100
None
0
Diffuse white matter abnormalities
disease
Pathological Conditions, Signs and Symptoms
Anatomical Abnormality
34
4
0.100
None
0