GRCh37/hg19 22q13.33(chr22:49602454-51183869) AND Phelan-McDermid syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002280637.1
Allele description [Variation Report for GRCh37/hg19 22q13.33(chr22:49602454-51183869)]
GRCh37/hg19 22q13.33(chr22:49602454-51183869)
Condition(s)
- Name:
- Phelan-McDermid syndrome
- Synonyms:
- TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232
Assertion and evidence details
Last Updated: Mar 26, 2023