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Neu-Laxova syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
Uniprot Description A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080075
OMIM:616038
UMLS:C4015019
MONDO:0014466
High level summary of knowledge for a disease, including descriptions and datasource references.