has material basis in germline mutation in disease has major feature OPHN1 X-linked intellectual disability-cerebellar hypoplasia syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_syndromic_billuart_type https://www.malacards.org/card/x_linked_intellectual_disability_cerebellar_hypoplasia_syndrome mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance SCTID:719136005 intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance OPHN1 XLMR, X-linked intellectual disability X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Oligophrenin-1 syndrome X-linked intellectual Deficit with cerebellar Hypoplasia X-linked intellectual disability-cerebellar hypoplasia syndrome MRX60 (formerly) intellectual disability, X-linked 60 intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive Orphanet:137831 MEDGEN:336920 mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance intellectual disability X-linked 60 (formerly) DOID:0080311 mental retardation X-linked 60 (formerly) MONDO:0010337 MESH:C537456 OPHN1 deficiency intellectual disability, X-linked 60, formerly OMIM:300486 UMLS:C1845366 OPHN1- related XLID mental retardation, X-linked 60 OPHN1 syndrome GARD:0009947 mental retardation, X-linked 60, formerly OPHN1 XLMR central nervous system malformation X-linked syndromic intellectual disability