WormBase Tree Display for DO_term: DOID:0080076
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| DOID:0080076 | Name | Neu-Laxova syndrome 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:0050721 | |||
| DB_info | Database | OMIM | disease | 256520 | |
| Attribute_of | Gene_by_orthology | WBGene00007836 |
