has characteristic has characteristic Autosomal recessive inheritance autosomal recessive disease HMBS-related neurovisceral porphyria homozygous dominant acute intermittent porphyria https://github.com/monarch-initiative/mondo/issues/10650 AIP-HD (autosomal recessive) acute intermittent porphyria (homozygous dominant) homozygous dominant AIP Acute intermittent porphyria caused by biallelic variants in HMBS inherited in an autosomal recessive inheritance pattern, and characterized by an extremely rare, predominantly neurologic presentation with childhood onset, including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia. AIP-HD HD-AIP autosomal recessive acute intermittent porphyria MONDO:0700520