NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) AND Oromandibular-limb hypogenesis spectrum
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000240033.1
Allele description [Variation Report for NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)]
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)
Condition(s)
- Name:
- Oromandibular-limb hypogenesis spectrum (MBS)
- Synonyms:
- Absence or underdevelopment of the 6th and 7th cranial nerves; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008006; MedGen: C0221060; Orphanet: 570; OMIM: 157900
Assertion and evidence details
Last Updated: Aug 25, 2024