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Metadata
ID	DOID:0080076
Name	Neu-Laxova syndrome 1
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 PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. https://www.omim.org/entry/256520
Xrefs	MIM:256520
Parent Relationships	is_a serine deficiency