To work out molecular weight of the chemical compound enter It really is formula, specify its isotope mass range soon after Each and every element in sq. brackets.
An abnormal restriction of fetal growth with fetal pounds down below the tenth percentile for gestational age.
Chilblains, also referred to as perniosis, are an inflammatory skin issue related to an irregular vascular reaction for the chilly. We're unaware of the dependable estimate of incidence. It commonly presents as tender, pruritic red or bluish lesions Found symmetrically within the dorsal element of the fingers, toes, ears and nose.
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Impaired power to eat linked to challenges gathering food and on the point of suck, chew, or swallow it.
Osteoporosis is often a systemic skeletal sickness characterized by reduced bone density and microarchitectural deterioration of bone tissue using a consequent rise in bone fragility.
OMIM Donation: Pricey OMIM Person, To ensure lengthy-phrase funding to the OMIM task, We have now diversified our earnings stream. We've been identified to keep this Web site freely accessible. Regrettably, It's not cost-free to make. Pro curators evaluate the literature and Manage it to aid your do the job. Over 90% of the OMIM's operating costs visit salary aid for MD and PhD science writers and biocurators.
005 in the gnomAD database. Noting that neither parental consanguinity nor mutational homozygosity was noticed for this phenotype, the authors advised that it final results from The mixture of a serious as well as a gentle mutation, with biallelic serious mutations most likely resulting in embryonic lethality, and 2 milder variants creating no phenotype or perhaps a phenotype not ascertained in their study.
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome similar genes Assessment.
Atrophy on the optic nerve. Optic atrophy benefits from your Loss of life from the retinal ganglion cell axons that comprise the optic nerve and manifesting to be a pale optic nerve on fundoscopy.
An abnormally enhanced muscular tone that causes fixed irregular postures. There exists a slow, intermittent twisting movement that brings about exaggerated turning and posture in the extremities and trunk.
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The existence of extreme fibrous connective tissue in the liver. Fibrosis is usually Ags9 a reparative or reactive approach.