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Qu'est-ce (qui) est X-linked recessive chondrodysplasia punctata - définition
X-linked recessive chondrodysplasia punctata
MEDICAL CONDITION
Chondrodysplasia punctata 1, x-linked recessive; Brachytelephalangic chondrodysplasia punctata; Chondrodysplasia punctata, brachytelephalangic
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.Freedberg, et al.
Chondrodysplasia punctata
HUMAN DISEASE
Autosomal dominant chondrodysplasia punctata
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.Freedberg, et al.
Rhizomelic chondrodysplasia punctata
![[[Peroxisome]] (this condition affects the peroxisome, causing [[peroxisome biogenesis disorders]].)](https://commons.wikimedia.org/wiki/Special:FilePath/Peroxisome.svg?width=200 "[[Peroxisome]] (this condition affects the peroxisome, causing [[peroxisome biogenesis disorders]].)")
HUMAN DISEASE
Chondrodysplasia punctata, rhizomelic; Peroxisomal biogenesis disorder complementation group 11; Rhizomelic chondrodysplasia punctata type 1; Rhizomelic chondrodysplasia punctata type 2; Rhizomelic chondrodysplasia punctata type 3; Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; Acyl-CoA dihydroxyacetonephosphate acyltransferase deficiency; Dihydroxyacetonephosphate acyltransferase deficiency; DHAPAT deficiency; Glyceronephosphate o-acyltransferase deficiency; GNPAT deficiency; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; Alkyldihydroxyacetonephosphate synthase deficiency; Alkylglycerone-phosphate synthase deficiency; AGPS deficiency; Autosomal recessive chondrodysplasia punctata type 1; Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e.
