MedGen

A subtype of breast cancer that is estrogen-receptor positive [from MONDO]

A subtype of breast cancer that is estrogen-receptor negative [from MONDO]

This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. [from HPO]

Being confined or restricted to a particular location. [from HPO]

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). Genetic Heterogeneity of Neu-Laxova Syndrome NLS2 (616038) is caused by mutation in the PSAT1 gene (610936) on chromosome 9q21. [from OMIM]