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DOID DOID:0080075
Name Neu-Laxova syndrome 2
Definition A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.
https://www.omim.org/entry/616038
Xrefs

OMIM:616038

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is_a serine deficiency

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