Additional Disease Briefs

NORD Summit 2026 Banner Ad

X-linked intellectual disability, Stocco dos Santos type

Also known as: SDSX, Sdsx, Stocco DOS Santos X-linked intellectual disability syndrome, Stocco DOS Santos X-linked mental retardation syndrome, Stocco dos Santos syndrome, intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type, intellectual disability, Stocco dos Santos type, intellectual disability, X-linked, Stocco Dos Santos type, mental retardation, Stocco dos Santos type, mental retardation, X-linked, Stocco Dos Santos type





X-linked lethal multiple pterygium syndrome

Also known as: lethal multiple pterygium syndrome, X-linked, multiple pterygium syndrome X-linked, multiple pterygium syndrome, X-linked, pterygium syndrome multiple X-linked, pterygium syndrome, multiple, X-linked


X-linked lissencephaly with abnormal genitalia

Also known as: LISX2, X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies, X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with ambiguous genitalia, X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome, X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, XLAG (X-linked lissencephaly with abnormal genitalia) syndrome, XLAG syndrome, Xlisg, hydranencephaly and abnormal genitalia, hydranencephaly with abnormal genitalia, lissencephaly, X-linked 2, lissencephaly, X-linked, 2, lissencephaly, X-linked, type 2, lissencephaly, X-linked, with ambiguous genitalia


X-linked lymphoproliferative disease due to SH2D1A deficiency

Also known as: Duncan disease, EBV infection, Severe, susceptibility to, Epstein-Barr Virus infection, familial fatal, Lyp, Purtilo syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency, XLP1, Xlp, immunodeficiency 5, immunodeficiency, X-linked progressive combined variable, infectious mononucleosis, Severe, susceptibility to, lymphoproliferative disease, X-linked, lymphoproliferative syndrome, X-linked, 1, lymphoproliferative syndrome, X-linked, 1, X-linked recessive


X-linked lymphoproliferative disease due to XIAP deficiency

Also known as: X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative syndrome type 2, XIAP deficiency, XIAP deficiency/XLPs, XIAP-related lymphoproliferative disease, X-linked, XLP2, Xiap deficiency, lymphoproliferative syndrome, X-linked, 2, lymphoproliferative syndrome, X-linked, 2, X-linked recessive, lymphoproliferative syndrome, X-linked, type 2


X-linked mandibulofacial dysostosis

Also known as: MFD Toriello type, X-linked branchial arch syndrome, X-linked mandibulofacial dysostosis with limb anomalies, branchial arch syndrome X-linked, branchial arch syndrome, X-linked, mandibulofacial dysostosis Toriello type, mandibulofacial dysostosis, Toriello type, mandibulofacial dysostosis, X-linked