Rare disorder with ptosis

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Rare disorder with ptosis

ORPHA:98578Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ABCD3ACTBACTG1BRAFBRD4CBLCNBPCOL25A1DBHDHCR7FGFR2FGFR3FLI1FOXL2GIPC1HDAC8KIF21AKIFBPKRASLIG3LRP12LZTR1MAU2MRASMT-TL1MT-TL2MT-TNMT-TS1NIPBLNOTCH2NLCNRASNUTM2B-AS1PABPN1PHF6PHOX2APOLGPOLR1BPOLR1CPOLR1DPTPN11RAD21RAF1RASA2RILPL1RIT1RRASRRAS2RRM2BSMC1ASMC3SOS1SOS2SPRED2TCOF1TFAP2BTUBA1ATUBB2BTUBB3TWIST1TYMPZFHX4ZNF462

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MESH D001763UMLS C5681651

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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