1. Mendelian
  2. Rare Diseases
  3. BIRK-LANDAU-PEREZ SYNDROME; BILAPES

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
And another 21 symptoms. If you need more information about this disease we can help you.
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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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