Disease #07009 (HYC (hydrocephalus))

Official abbreviation HYC
Name hydrocephalus
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 2 genes SMARCC1, TRIM71
Associated tissues -
Disease features -
Remarks -
Date created 2023-04-07 10:57:22 +02:00 (CEST)
Date last edited N/A


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00434791 Hydro105-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis - SMARCC1 1 1 Johan den Dunnen
00434792 Hydro106-4 PubMed: Furey 2018 3-generation family, 1 affected/2 fetuses died in utero, unaffected carrier father F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis; 2 fetuses died in utero from obstructive hydrocephalus - SMARCC1 1 1 Johan den Dunnen
00434793 Hydro108-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected carrier father F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis - SMARCC1 1 1 Johan den Dunnen
00434794 Hydro107-1 PubMed: Furey 2018 3-generation family, 1 affected, unaffected carrier mother (from unaffected carrier grandfather) M - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis - SMARCC1 1 1 Johan den Dunnen
00434795 Hydro109-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis - SMARCC1 1 1 Johan den Dunnen
00434796 Hydro100-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - HYC congenital hydrocephalus - TRIM71 1 1 Johan den Dunnen
00434797 Hydro101-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - HYC congenital hydrocephalus - TRIM71 1 1 Johan den Dunnen
00434798 Hydro102-1/son PubMed: Furey 2018 3-generation family, affected mother/son, unaffected non-carrier grandparents F;M - - - - - - - HYC congenital hydrocephalus - TRIM71 1 2 Johan den Dunnen
00434799 HydroFam100 PubMed: Furey 2018 2-generation family, affected mother/2 sons F;M - - - - - - - HYC congenital hydrocephalus, aqueductal stenosis; mother Gorlin syndrome - PTCH1 1 3 Johan den Dunnen
00434800 Hydro104 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents F - - - - - - - HYC congenital hydrocephalus, aqueductal stenosis - PTCH1 1 1 Johan den Dunnen
00434801 Hydro103 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents M - - - - - - - HYC congenital hydrocephalus, aqueductal stenosis - PTCH1 1 1 Johan den Dunnen
00434802 Hydro229-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - HYC congenital hydrocephalus - PLOD2 1 1 Johan den Dunnen
00434803 Hydro451-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - HYC congenital hydrocephalus - PLOD2 1 1 Johan den Dunnen
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