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Neu-Laxova syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
Uniprot Description A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.
Mondo Term and Equivalent IDs
MONDO:0014466:  Neu-Laxova syndrome 2
UMLS:C4015019: