has material basis in germline mutation in HEXB eye disorder Sandhoff disease https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9323 https://www.malacards.org/card/sandhoff_disease OMIM:268800 NORD:1688 MEDGEN:11313 NANDO:1200072 MESH:D012497 DOID:3323 GM2 gangliosidosis, 0 variant Sandhoff Jatzkewitz disease GARD:0002521 NCIT:C85052 Hexosaminidases A and B deficiency ICD10CM:E75.01 Sandhoff disease GM2 gangliosidosis 0 variant A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration. UMLS:C0036161 icd11.foundation:708581915 Orphanet:796 SCTID:23849003 MONDO:0010006 NANDO:2201200 GM2 gangliosidosis hereditary peripheral neuropathy cerebral lipidosis with dementia