disease has major feature syndromic X-linked intellectual disability Najm type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9747 https://www.malacards.org/card/intellectual_developmental_disorder_with_microcephaly_and_pontine_and_cerebellar_hypoplasia https://www.malacards.org/card/syndromic_x_linked_intellectual_disability_najm_type MESH:C567466 MONDO:0010417 syndromic X-linked intellectual disability Najm type A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. mental retardation and microcephaly with PONTINE and cerebellar hypoplasia MEDGEN:437070 intellectual disability and microcephaly with pontine and cerebellar hypoplasia DOID:0060807 Orphanet:163937 X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia GARD:0012669 mental retardation and microcephaly with pontine and cerebellar hypoplasia UMLS:C2677903 MICPCH microcephaly with pontine and cerebellar hypoplasia X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome OMIM:300749 mental retardation, X-linked, syndromic, Najm type MICPCH syndrome central nervous system malformation CASK-related intellectual disability