NM_000489.6(ATRX):c.7366dup (p.Met2456fs) AND Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002465434.1
Allele description [Variation Report for NM_000489.6(ATRX):c.7366dup (p.Met2456fs)]
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
Condition(s)
- Name:
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Synonyms:
- XLMR-HYPOTONIC FACIES SYNDROME; Mental retardation-hypotonic facies syndrome X-linked, 1; Smith Fineman Myers syndrome 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010663; MedGen: C4759781; Orphanet: 73220; Orphanet: 93970; Orphanet: 93971; Orphanet: 93972; Orphanet: 93973; Orphanet: 93974; Orphanet: 93975; OMIM: 309580
Assertion and evidence details
Last Updated: Aug 5, 2023