disease has major feature syndromic intellectual disability congenital nervous system disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability spondyloepiphyseal dysplasia X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/x_linked_intellectual_disability_cerebellar_hypoplasia_spondylo_epiphyseal_dysplasia_syndrome GARD:0017815 UMLS:C5687848 MEDGEN:1811349 Orphanet:459070 MONDO:0018724 central nervous system malformation hereditary neurological disease