has material basis in germline mutation in OXR1 congenital nervous system disorder isolated cerebellar hypoplasia/agenesis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6876 https://www.malacards.org/card/cerebellar_hypoplasia https://www.malacards.org/card/cerebellar_hypoplasia_atrophy_epilepsy_and_global_developmental_delay https://www.malacards.org/card/isolated_cerebellar_agenesis MESH:C562568 NORD:910 Chiari 4 malformation OMIM:213000 MedDRA:10008033 SCTID:16026008 NCIT:C98890 MEDGEN:1695950 Orphanet:1398 Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. UMLS:C5231391 GARD:0018720 congenital cerebellar Hypoplasia cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay DOID:0070338 subtotal absence of cerebellum Chiari IV malformation near total absence of cerebellum MONDO:0008939 disorder of development or morphogenesis hereditary neurological disease