NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001883211.4
Allele description [Variation Report for NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)]
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 1 (DEE1)
- Synonyms:
- INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
- Name:
- Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
- Synonyms:
- MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419
Assertion and evidence details
Last Updated: Oct 8, 2024