All individuals with variants in gene MAB21L1

10 entries on 1 page. Showing entries 1 - 10.
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Owner     
00336029 Fam1PatB PubMed: Seese 2021, Journal: Seese 2021 2 generation family, affected female child and father, unaffected mother (does not have variant) F - Dominican Republic black, Hispanic - 0 - - AN HP:0000526; HP:0000482; HP:0000568 1 2 Sarah Seese
00336030 - PubMed: Seese 2021, Journal: Seese 2021 2 generation family with 1 affected child (compound heterozygote), unaffected parents (parents not tested for variants) F - - South Asian - - - - MCOP HP:0000568; HP:0000589; HP:0000519 2 1 Sarah Seese
00336031 - PubMed: Seese 2021, Journal: Seese 2021 2 generation family: affected child (compound heterozygote) and unaffected parents (one carries coding, other carries noncoding variant) F - Australia white - - - - MCOP HP:0000568; HP:0000589 2 1 Sarah Seese
00376964 Fam1PatA PubMed: Seese 2021, Journal: Seese 2021 father M - Dominican Republic black, Hispanic - 0 - - AN bilateral microphthalmia, microcornea, aniridia, ectopia lentis 1 1 Johan den Dunnen
00376965 patient PubMed: Bruel 2017 - M yes Algeria - - 0 - - ? see paper; ..., corneal dystrophy, buphthalmos, strabismus, nystagmus, cerebellar malformation; facial dysmorphism;global development delay; scrotal agenesis 1 1 Johan den Dunnen
00376966 Fam5 Batten disease databasePubMed: Rad 2019 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - 0 - - NDD see paper; ..., corneal dystrophy, nystagmus, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis 1 3 Johan den Dunnen
00376967 Fam4 PubMed: Rad 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - 0 - - NDD see paper; ..., corneal dystrophy, nystagmus, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis 1 1 Johan den Dunnen
00376968 Fam3 PubMed: Rad 2019 2-generation family, 1 affected, unaffected heterozygous carrier parent F yes Lebanon Shia - 0 - - NDD see paper; ..., corneal dystrophy, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay 1 1 Johan den Dunnen
00376969 Fam2 PubMed: Rad 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Persia - 0 - - NDD see paper; ..., corneal dystrophy, nystagmus, retinal dystrophy, optic atrophy, cerebellar malformation, facial dysmorphism, scrotal agenesis 1 1 Johan den Dunnen
00376970 Fam1 PubMed: Rad 2019 6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes - Persia - 0 - - NDD see paper; ..., corneal dystrophy, strabismus, nystagmus, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis 1 4 Johan den Dunnen
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