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
Poor eye contact
phenotype
Mental Disorders
Finding
73
6
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
Diabetes Mellitus
group
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
2803
824
0.100
None
0
Fetal Distress
disease
Pathological Conditions, Signs and Symptoms
Pathologic Function
44
1
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Increased CSF lactate
phenotype
Finding
87
1
0.100
None
0
Proximal tubulopathy
phenotype
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Finding
37
0.100
None
0
Decreased activity of the pyruvate dehydrogenase complex
phenotype
Finding
35
3
0.100
None
0
Anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
847
94
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
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Focal T2 hyperintense basal ganglia lesion
phenotype
Finding
46
3
0.100
None
0
Decreased activity of mitochondrial respiratory chain
phenotype
Finding
34
0.100
None
0
Focal T2 hyperintense brainstem lesion
phenotype
Finding
33
2
0.100
None
0
Abnormal mitochondria in muscle tissue
disease
Anatomical Abnormality
39
2
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Decreased activity of mitochondrial complex I
phenotype
Finding
41
3
0.100
None
0
Nystagmus, CTCAE 3.0
phenotype
Finding
779
0.100
None
0
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Progressive spastic paraplegia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
59
1
0.100
None
0
Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
0.100
None
0