NM_002448.3(MSX1):c.624G>C (p.Ser208=) AND Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003825125.1
Allele description [Variation Report for NM_002448.3(MSX1):c.624G>C (p.Ser208=)]
NM_002448.3(MSX1):c.624G>C (p.Ser208=)
Condition(s)
- Name:
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)
- Synonyms:
- NAIL DYSPLASIA WITH HYPODONTIA; Witkop syndrome; Dysplasia of nails with hypodontia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008582; MedGen: C0406735; Orphanet: 2228; OMIM: 189500
Assertion and evidence details
Last Updated: Mar 5, 2024