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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...
3.3 per 100,000 (adults), 50 per 100,000 (children) [90] Thrombotic thrombocytopenic purpura: ADAMTS13 autoantibodies Confirmed 1-2 per million [91] Antiphospholipid syndrome: Antiphospholipid antibodies Confirmed 40-50 per 100,000 [92] Paroxysmal nocturnal hemoglobinuria: None specific, mutation causes self-cells to become susceptible to ...
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
A new study finds that 9 out of 10 adults in the U.S. may have cardiovascular-kidney-metabolic (CKM) syndrome. The research found 90% of adults qualify for stage 1 or higher of this condition.
You’ve heard about ADHD in children , and you even recognize how important it is for kids’ and their families to spot and acknowledge it...
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. [ 5 ] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities.