has material basis in germline mutation in ASPA Canavan disease https://rarediseases.info.nih.gov/diseases/5984/canavan-disease https://www.malacards.org/card/canavan_disease icd11.foundation:1576870846 Canavan disease spongy degeneration of the central nervous system MONDO:0010079 UMLS:C0206307 MESH:D017825 NCIT:C84611 GARD:0005984 NORD:886 ACY2 deficiency SCTID:80544005 spongy degeneration of central nervous system Orphanet:141 DOID:3613 MedDRA:10067608 aspartoacylase deficiency Von Bogaert-Bertrand disease OMIM:271900 spongy degeneration of the brain aminoacylase 2 deficiency MEDGEN:61565 A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. NANDO:1200948 Canavan-VAN Bogaert-Bertrand disease NANDO:2200834 obsolete amino acid or protein metabolism disease with epilepsy inborn aminoacylase deficiency leukodystrophy