Birk-landau-perez Syndrome; Bilapes
Genes related to Birk-landau-perez Syndrome; Bilapes
- SLC30A9
Clinical Features
Top most frequent phenotypes and symptoms related to Birk-landau-perez Syndrome; Bilapes
- Intellectual disability
- Generalized hypotonia
- Ataxia
- Strabismus
- Ptosis
- Muscle weakness
- Cognitive impairment
- Hypertension
- Renal insufficiency
- Dystonia
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Incidence and onset information
— Not enough data available about incidence and published cases.
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Birk-landau-perez Syndrome; Bilapes Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
SLC30A9.
By Fulgent Genetics Fulgent Genetics in United States.
SLC30A9
Specificity
100 %
Genes
100 % |
Alternate names
Birk-landau-perez Syndrome; Bilapes Is also known as ;cerebrorenal syndrome, perez type.
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