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Neu-Laxova syndrome 2
Summary
- 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.
- Super Class
- serine deficiency
External Links
- Disease Ontology
- DOID:0080075
- Mondo Disease Ontology
- OMIM
