Congenital disorder of glycosylation type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
80
|
0.800 |
None |
1.000 |
94 |
80
|
1995 |
2019 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
4
|
|
|
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.500 |
strong |
0.982 |
56 |
3
|
1997 |
2020 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
12 |
3
|
1997 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
12 |
3
|
1997 |
2017 |
Pericardial effusion
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
98
|
10
|
0.100 |
None |
|
0 |
3
|
|
|
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.100 |
None |
|
0 |
3
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.120 |
None |
1.000 |
14 |
2
|
1997 |
2019 |
Congenital Disorder Of Glycosylation, Type In
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
9
|
10
|
0.020 |
None |
1.000 |
2 |
2
|
2015 |
2016 |
Hydrops Fetalis, Non-Immune
|
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
|
51
|
22
|
0.410 |
strong |
1.000 |
2 |
2
|
2012 |
2020 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.120 |
None |
1.000 |
2 |
2
|
2015 |
2018 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.110 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
2
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
2
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
2
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
2
|
|
|
Pleural effusion disorder
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
227
|
14
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
2
|
|
|
Esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
39
|
0.100 |
None |
|
0 |
2
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
2
|
|
|
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.100 |
None |
|
0 |
2
|
|
|