OBO ID: DOID:0080076
Term Name: Neu-Laxova syndrome 1 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   ( DOID:0080076 )
Relationships
is a type of:
OTHER Neu-Laxova syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHGDH Neu-Laxova syndrome 1 256520
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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