New ORPHAcode for Combined oxidative phosphorylation deficiency 54

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New ORPHAcode for Combined oxidative phosphorylation deficiency 54 #220

Open Orphanet-ES opened 4 months ago

Orphanet-ES commented 4 months ago

Dear all,

A Spanish coder suggests the creation of an ORPHAcode for Combined oxidative phosphorylation deficiency 54, caused by homozygous or compound heterozygous mutation in the PRORP gene (609947) on chromosome 14q13.

OMIM 619737

Kind regards,

María Elena

Orphanet-AysegulSenol commented 3 months ago

Dear Maria Elena,

I will treat this demand in September and keep you updated,

Best wishes,

Aysegul