Chondrodysplasia Punctata 2, X-linked malady

Genetics Home Reference: X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.¹⁷

MalaCards: Chondrodysplasia Punctata 2, X-linked, also known as happle syndrome, is related to chondrodysplasia punctata 1, x-linked and child syndrome. An important gene associated with Chondrodysplasia Punctata 2, X-linked is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include skin.

GeneReviews summary for x-dcdp

chondrodysplasia punctata 2, x-linked 15 16 17 happle syndrome 15 16 17 conradi-hünermann syndrome 15 17 cdpx2 16 17 chondrodysplasia punctata, x-linked dominant type 43

chondrodysplasia punctata 2, x-linked dominant 43 x-linked chondrodysplasia punctata 2 17 conradi-hünermann-happle syndrome 17 conradi hunermann syndrome 16 chondrodysplasia punctata 43

Diseases related to chondrodysplasia punctata 2, x-linked by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	chondrodysplasia punctata 1, x-linked	10.7
2	child syndrome	6.3

Approved drugs:

Drug clinical trials:

Genetic tests related to chondrodysplasia punctata 2, x-linked:

id	Genetic test	Affiliating Genes
1	Chondrodysplasia Punctata 2, X-linked clinical/research	EBP

MalaCards organs/tissues related to chondrodysplasia punctata 2, x-linked:

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Genes related to chondrodysplasia punctata 2, x-linked according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	EBP	emopamil binding protein (sterol isomerase)	11.1	Disorders, Aliases & Descriptions