has material basis in germline mutation in MTTP familial hemolytic anemia intestinal disorder abetalipoproteinemia https://www.malacards.org/card/abetalipoproteinemia homozygous familial hypobetalipoproteinemia Orphanet:14 OMIM:200100 NANDO:1200857 NANDO:2200604 GARD:0000005 NCIT:C84525 apolipoprotein B deficiency UMLS:C0000744 Betalipoprotein deficiency disease Bassen Kornzweig syndrome MEDGEN:1253 abetalipoproteinemia neuropathy abetalipoproteinemia congenital betalipoprotein deficiency syndrome DOID:1386 MONDO:0008692 MESH:D000012 Bassen-Kornzweig disease Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. ABL icd11.foundation:1117838449 SCTID:190787008 NORD:703 hypobetalipoproteinemia autosomal recessive metabolic cerebellar ataxia hereditary peripheral neuropathy