restrictive dermopathy 1

Rare Disease

MONDO:0800042

Also known as:

restrictive dermopathyfetal hypokinesia sequence due to restrictive dermopathyfoetal hypokinesia sequence due to restrictive dermopathy

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Companies Active in restrictive dermopathy 1

2 companies

Organizations with orphan designations or approved therapies for this disease

Genzyme Corporation, a Sanofi Company

Other

Designated

Novadip Biosciences