Neu-Laxova syndrome 2

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 PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.

Signs and symptoms

• Sloping forehead
• Microcephaly
• Ichthyosis
• Rocker bottom foot
• Decreased fetal movement
• Intrauterine growth retardation
• Micrognathia
• Short neck
• Low-set ears
• Hypertelorism