A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyse

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

spondylo-epifyseale dysplasie, retinale dystrofie, immuundeficiëntie

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

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A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead,

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syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie

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https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

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Date index: 2021-12-16