Version: 8.0.0
Date: Tue Jan 28 2025
Neu-Laxova syndrome 1
DOID:0080076
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
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