Disease #00078 (THES (trichohepatoenteric syndrome), OMIM:222470)

Official abbreviation THES
Name trichohepatoenteric syndrome
OMIM ID 222470
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 2 genes SKIV2L, TTC37
Associated tissues -
Disease features -
Remarks -


Individuals

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00000488 Way Seah Lee et al.(2016) M Malaysia Chinese - - - THES Severe FTT, prominent forehead, depressed nasal bridge, hair is sparse, depigmented, easily removed and unmanageable SKIV2L SKIV2L 2 1 Nur Aisyah Athirah
00000489 Way Seah Lee et al.(2016) M Malaysia Chinese - - - THES Severe diarrhoea, prominent forehead, depressed nasal bridge, growth parameters below third percentile TTC37 TTC37 1 1 Nur Aisyah Athirah
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