All individuals with variants in gene DYM

39 entries on 1 page. Showing entries 1 - 39.
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00291972 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291973 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00331404 12DG2198, 12DG2199 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - - - - - - skeletal dysplasia Non-Arab ( Disproportionate short stature, Microcephaly, Pectus carinatum, Spinal canal stenosis, WiYes 1 2 LOVD
00331405 12DG2350 PubMed: Maddirevula 2018 isolated case M no - - - - - - skeletal dysplasia Non-Arab ( Intellectual disability, Short stature, Pectus carinatum, Failure to thrive 2 1 LOVD
00331406 13DG2185, 13DG2186, 13DG2187 PubMed: Maddirevula 2018 family, 3 affected (3F) F yes - Arab - - - - skeletal dysplasia Intellectual disability, Microcephaly, Pectus carinatum, Failure to thrive 1 3 LOVD
00331407 13DG0239 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Global developmental delay, Short stature, Scoliosis 1 1 LOVD
00331408 13DG0451 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes 1 1 LOVD
00331409 13DG0720, 13DG0721 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Microcephaly, Generalized hypotonia, Brisk reflexes, Intellectual disability, Yes 1 2 LOVD
00331410 13DG0723, 13DG0724 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Failure to thrive, Intellectual disability 1 2 LOVD
00331411 13DG0636, 13DG0636 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Intellectual disability, Short stature, Short neck, Pectus excavatum, Intercostal retractions Yes 1 2 LOVD
00331412 13DG2222 PubMed: Maddirevula 2018 isolated case M - - Arab - - - - skeletal dysplasia Skeletal dysplasia 1 1 LOVD
00331413 17DG0789 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Intellectual disability, Abnormality of the vertebral column, Microcephaly 1 1 LOVD
00331414 17DG0790 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes 1 1 LOVD
00331415 17DG0791 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes 1 1 LOVD
00331416 17DG0792 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes 1 1 LOVD
00331417 17DG0793 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Failure to thrive, Profound global developmental delay, Coarse facial features 1 1 LOVD
00331418 17DG0794 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes 1 1 LOVD
00359404 Pat56 PubMed: Silveira 2021, Journal: Silveira 2021 - M yes Brazil - - - - - DMC - 1 1 Maria Dora Jazmin Lacarrubba-Flores
00387719 M143 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387783 M8600158 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00412708 - - - - yes (Pakistan) - - - - - DMC - 1 1 Asmat Ullah
00423220 family PubMed: Abdullah 2020 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - DMC see paperp; ..., skeletal dysplasia, mental retardation, progressive spondyloepimetaphyseal dysplasia, disproportionate short stature, generalized platyspondyly, lacy iliac crest 1 9 Johan den Dunnen
00431167 Fam1PatD1 PubMed: Varshney 2023 4-generation family, affected brother/sister, first cousin parents M yes India - - - - - SEMD - 1 2 Johan den Dunnen
00431168 Fam1PatD2 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431169 Fam2PatD3 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431170 Fam3PatD4 PubMed: Varshney 2023 2-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431171 Fam4PatD5 PubMed: Varshney 2023 4-generation family, 1 affected, uncle/niece parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431172 Fam6PatD7 PubMed: Varshney 2023 4-generation family, affected sisters, first cousin parents F yes India - - - - - SEMD - 1 2 Johan den Dunnen
00431173 Fam6PatD8 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431174 Fam7PatD9 PubMed: Varshney 2023 5-generation family, 1 affected, first cousin parents F yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431175 Fam8PatD10 PubMed: Varshney 2023 2-generation family, affected brother/sister, first cousin parents M yes India - - - - - SEMD - 1 2 Johan den Dunnen
00431176 Fam8PatD11 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431177 Fam9PatD12 PubMed: Varshney 2023 2-generation family, 1 affected, unaffected parents M no India - - - - - SEMD - 1 1 Johan den Dunnen
00431178 Fam10PatD13 PubMed: Varshney 2023 4-generation family, 1 affected, uncle/niece parents F yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431179 Fam11PatD14 PubMed: Varshney 2023 2-generation family, 1 affected, unaffected parents M no India - - - - - SEMD - 1 1 Johan den Dunnen
00431180 Fam12PatD15 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431181 Fam13PatD16 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431188 Fam18PatD23 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
00431189 Fam19PatD24 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - 1 1 Johan den Dunnen
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