Muscular hypotonia of the trunk
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
156
25
0.100
None
0
Redundant neck skin
phenotype
Finding
16
3
0.100
None
0
Increased serum lactate
phenotype
Nutritional and Metabolic Diseases
Finding
169
2
0.100
None
0
Low serum estradiol levels
phenotype
Finding
33
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Secondary physiologic amenorrhea
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
58
2
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
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.100
None
0
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Gonadal Dysgenesis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
53
6
0.100
None
0
Ascites
phenotype
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
198
7
0.100
None
0
Osteopenia
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
845
61
0.100
None
0
Arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
102
25
0.100
None
0
Delayed Puberty
phenotype
Endocrine System Diseases
Pathologic Function
196
21
0.100
None
0
Pulmonary Fibrosis
disease
Respiratory Tract Diseases
Disease or Syndrome
924
25
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Primary physiologic amenorrhea
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
129
10
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Metabolic acidosis
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
85
0.100
None
0
Movement Disorders
group
Nervous System Diseases
Disease or Syndrome
362
247
0.100
None
1.000
5
1
2007
2017
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
5
1
2007
2017
Combined Oxidative Phosphorylation Deficiency 5
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
1
2
0.700
None
1.000
3
2
2007
2017
Mitochondrial Diseases
group
Nutritional and Metabolic Diseases
Disease or Syndrome
284
84
0.030
None
1.000
3
2007
2018
Hypertrophic Cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
560
635
0.120
None
1.000
2
2007
2011