All individuals with variants in gene DYNC1I2

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     
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00239764 Fam1PatIV1 PubMed: Ansar 2019 7-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - ID severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, near complete agenesis corpus callosum with colpocephaly, mild brain atrophy; severe intellectual disability (HP:0010864); speech delay (HP:0000750) 1 3 Johan den Dunnen
00239765 Fam1PatIV2 PubMed: Ansar 2019 - F - Pakistan - - - - - ID severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; severe intellectual disability (HP:0010864); speech delay (HP:0000750) 1 1 Johan den Dunnen
00239766 Fam1PatIV3 PubMed: Ansar 2019 - F - Pakistan - - - - - ID severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; severe intellectual disability (HP:0010864); speech delay (HP:0000750) 1 1 Johan den Dunnen
00239767 Fam2PatII1 PubMed: Ansar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - European - - - - ID severe intellectual disability, developmental delay, delayed speech, delayed motor milestones; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, mega-cisterna magna, absence rostrum and genu corpus callosum and septum pellucidum, partial absence splenium; seizures, multiple hemangiomas; severe intellectual disability (HP:0010864); speech delay (HP:0000750) 2 1 Johan den Dunnen
00239768 Fam3PatII1 PubMed: Ansar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland;Russian Federation - - - - - ID severe intellectual disability, developmental delay, delayed speech, delayed motor milestones; facial dysmorphism; MRI brain microcephalywith simplified gyral pattern, hypogenesis corpus callosum (small genu and splenium, reduced white matter volume, ventricle abnormality), large trigones; seizures, hypothyroidism, gastresophageal reflux, joint hyperextensibility, unilateral hearing loss due to left cochlear defect; severe intellectual disability (HP:0010864); speech delay (HP:0000750) 2 1 Johan den Dunnen
00453035 Fam12 Journal: Paracha 2024 2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - NDD mild-moderate intellectual disability, microcephaly, short stature, developmental delay, aggressive behavior, mild facial dysmorphism (upslanting palpebral features, anteverted nares, bulbous nose) 1 3 Muhammad Umair
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