Decreased CSF homovanillic acid
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Weight less than 3rd percentile
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Inappropriate crying
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Esotropia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Cortical visual impairment
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Cerebral white matter atrophy
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Infantile Spasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Increased IgM level
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Serum creatinine low
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Neutrophil count abnormal
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Global developmental delay
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Lymphocyte count abnormal
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Narrow forehead
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Retinal pigment epithelial mottling
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Low alkaline phosphatase
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Anteriorly placed anus
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Neutrophil count decreased
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Low posterior hairline
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Premature adrenarche
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Hypsarrhythmia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Monocytosis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Congenital overgrowth of lower limb
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Strabismus
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Hyperopia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |