Disease #05382

Official abbreviation PREMBL
Name lethality, embryonic, preimplantation (PREMBL)
OMIM ID -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 2 genes PADI6, TLE6
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00151817 27545678-Fam1PatIV5 PubMed: Xu 2016, Journal: Xu 2016 3-generation family, 3 affected sisters (3F), unaffected heterozygous carrier parents/sibs, homozygous brother F yes China - - 0 - - PREMBL see paper; ... PADI6 EPHB2, PADI6 2 3 Johan den Dunnen
00151818 27545678-Fam2 PubMed: Xu 2016, Journal: Xu 2016 1-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - 0 - - PREMBL - PADI6 PADI6 2 1 Johan den Dunnen
00151819 27545678-Fam3 PubMed: Xu 2016, Journal: Xu 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - 0 - - PREMBL see paper; ... PADI6 PADI6 2 1 Johan den Dunnen
00151820 26537248 PubMed: Alazami 2015 2-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents F yes Saudi Arabia - - 0 - - PREMBL see paper; ..., presented for treatment of primary infertility TLE6 TLE6 1 2 Johan den Dunnen
00151821 26537248-Fam2 PubMed: Alazami 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - 0 - - PREMBL see paper; .., presented for treatment of primary infertility TLE6 TLE6 1 1 Johan den Dunnen
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