NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter) AND Lethal tight skin contracture syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004497.3
Allele description [Variation Report for NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter)]
NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter)
Condition(s)
- Name:
- Lethal tight skin contracture syndrome
- Synonyms:
- Hyperkeratosis-contracture syndrome; Restrictive dermopathy, lethal; Fetal hypokinesia sequence due to restrictive dermopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0031213; MedGen: C0406585; Orphanet: 1662; OMIM: PS275210
Assertion and evidence details
Last Updated: Dec 24, 2023