Additional Disease Briefs

infantile-onset ascending hereditary spastic paralysis

Also known as: IAHSP, spastic paralysis, infantile onset ascending, spastic paralysis, infantile-onset ascending

infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Also known as: Norwegian infantile onset ataxia, SCAR6, autosomal recessive spinocerebellar ataxia type 6, cerebellar ataxia infantile nonprogressive autosomal recessive, cerebellar ataxia, infantile nonprogressive, autosomal recessive, spinocerebellar ataxia autosomal recessive 6, spinocerebellar ataxia, autosomal recessive 6

infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Also known as: ANOAC, axonal neuropathy-optic atrophy-cognitive deficit syndrome

infantile-onset generalized dyskinesia with orofacial involvement

Also known as: IOLOD, dyskinesia, limb and orofacial, infantile-onset, infantile-onset orofacial-trunk-limbs dyskinesia

infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

infantile-onset periodic fever-panniculitis-dermatosis syndrome

Also known as: AIPDS, AUTOINFLAMMATION, panniculitis, and dermatosis syndrome, Autoinflammation, panniculitis, and dermatosis syndrome, ORAS, autoinflammation, panniculitis and dermatosis syndrome, otulin deficiency, otulin-related autoinflammatory syndrome, otulipenia

infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

Also known as: OAS1 deficiency, OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

infantile-onset X-linked spinal muscular atrophy

Also known as: AMC, distal, X-linked, SMAX2, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2, arthrogryposis multiplex congenita, distal, X-linked, arthrogryposis, X-linked, type 1, spinal muscular atrophy with arthrogryposis, spinal muscular atrophy, X-linked 2, spinal muscular atrophy, X-linked 2, infantile, X-linked recessive, spinal muscular atrophy, X-linked lethal infantile, spinal muscular atrophy, X-linked type 2, spinal muscular atrophy, infantile X-linked

infection-related hemolytic uremic syndrome