| Metadata | |
|---|---|
| ID | DOID:0080076 |
| Name | 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. https://www.omim.org/entry/256520 |
| Xrefs | |
| Parent Relationships |
is_a serine deficiency |
| Subclass Logical Relationships |
has symptom some ptosis |