" /> Neu-laxova syndrome 1 - CISMeF





Preferred Label : Neu-laxova syndrome 1;

Symbol : NLS1;

CISMeF acronym : NLS; NLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neu-laxova syndrome; NLS;

Description : Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglycerate dehydrogenase gene (PHGDH, 606879.0007);

Prefixed ID : #256520;

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01/05/2025


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