NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) AND Mucopolysaccharidosis, MPS-II
- 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:
- RCV001291016.2
Allele description [Variation Report for NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)]
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-II (MPS2)
- Synonyms:
- Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900
-
D013132 (1)
MeSH
-
Spinocerebellar Degenerations
Spinocerebellar DegenerationsA heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and ...<br/>Year introduced: 2000(1987)MeSH
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 23, 2022