Variants
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Hypotonia with lactic acidemia and hyperammonemia

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Description

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

23

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Genes

External Links

  • OMIM

    611719

  • Orphanet

    137908

  • HPO
  • Medgen

    C2673642

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