Partial deletion of the long arm of…

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Partial deletion of the long arm of chromosome 17 syndrome

ORPHA:262137Category

Also called Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q · Partial monosomy of the long arm of chromosome 17

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

BPTFHNF1BKANSL1LHX1NF1PSMD12TBX4

Orphanet records these genes on 5 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

MONDO 0016915MONDO 16915UMLS C5679727

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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