Lethal multiple congenital…

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Lethal multiple congenital anomalies/dysmorphic syndrome

ORPHA:459787Category

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

B9D1B9D2CC2D2ACENPFCEP290CEP55CHRNA1CHRNDCHRNGCILK1CSPP1FTOGPKOWHLXMKS1NEBPAICSPLATRAPSNRIPK4RPGRIP1RPGRIP1LRYR1SIRT6TCTN1TCTN2TCTN3TMEM107TMEM216TMEM231TMEM237TMEM67TXNDC15

Orphanet records these genes on 12 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 18731UMLS C5681114

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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