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Trichohepatoneurodevelopmental syndrome(THNS)

MedGen UID:
1648322
Concept ID:
C4748898
Disease or Syndrome
Synonym: THNS
 
CCDC47 (17q23.3)
 
Monarch Initiative: MONDO:0032645
OMIM®: 618268

Definition

Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018). [from OMIM]

Clinical features

From HPO

Recent clinical studies

Clinical prediction guides

Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D
Am J Hum Genet 2024 Nov 7;111(11):2566-2581. Epub 2024 Oct 28 doi: 10.1016/j.ajhg.2024.10.002. PMID: 39471804Free PMC Article

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