A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
1234170016
NLS - Neu-Laxova syndrome
Active
Synonym
false
false
129141014
Neu-Laxova syndrome
Active
Synonym
false
false
3788772015
3-phosphoglycerate dehydrogenase deficiency neonatal form