Neu-Laxova syndrome 1

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

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.

Signs and symptoms

• Primary microcephaly
• Brain atrophy
• Ventriculomegaly
• Short neck
• Generalized edema
• Ichthyosis
• Absent eyelashes
• Micromelia
• Toe syndactyly
• Cataract