All individuals with variants in gene SNAPIN

7 entries on 1 page. Showing entries 1 - 7.
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00150221 26539891-FamBAB5382 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, hypotonia 1 1 Johan den Dunnen
00467461 FamAPatII1 PubMed: Yousaf 2025, Journal: Yousaf 2025 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - yes United States Pakistan <0d - - - NDD see paper; ...,26wg-intrauterine death; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; flexion contractures; no microcephaly 1 1 Johan den Dunnen
00467462 FamBPatII3 PubMed: Yousaf 2025, Journal: Yousaf 2025 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - yes Netherlands - <0d - - - NDD see paper; ..., 23wg-termination pregnancy; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; no microcephaly; micrognathia and/or retrognathia; clenched fists with overlapping fingers; brainstem dysgenesis, interhemispheric cyst, lissencephaly, schizencephaly, narrow thoracic cavity, skin edema 1 1 Johan den Dunnen
00467463 FamCPatII2 PubMed: Yousaf 2025, Journal: Yousaf 2025 2-generation family, 2 affected fetusess, unaffected heterozygous carrier parents - yes France - <0d - - - NDD see paper; ..., 22wg-termination pregnancy; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; microcephaly; micrognathia and/or retrognathia; brainstem dysgenesis, lissencephaly, periventricular heterotopia, vermis dysgenesis, fetal immobility, cleft palate, malposition extremities 1 2 Johan den Dunnen
00467464 FamCPatII3 PubMed: Yousaf 2025, Journal: Yousaf 2025 fetus - yes France - <0d - - - NDD see paper; ..., 18wg-termination pregnancy; ventriculomegaly; no cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; micrognathia and/or retrognathia; cortical dysplasia, hippocampal winding defect, fetal immobility, malposition extremities, fetal hydrops 1 1 Johan den Dunnen
00467465 FamDPatII2 PubMed: Yousaf 2025, Journal: Yousaf 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France - - - - - NDD see paper; ..., no ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; corpus callosum agenesis; no flexion contractures; microcephaly; no micrognathia, no retrognathia; no clenched fists with overlapping fingers; cerebellar vermis atrophy, amyotrophy, cataract with bilateral microphthalmia, small hands/feet, growth hormone deficiency 1 1 Johan den Dunnen
00467466 FamEPatII3 PubMed: Yousaf 2025, Journal: Yousaf 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Syria - - - - - NDD see paper; ..., ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; no flexion contractures; microcephaly; micrognathia and/or retrognathia; no clenched fists with overlapping fingers; nodular heterotopia, optic atrophy, enlarged cisterna magna, polymicrogyria, ventricular septal defect 1 1 Johan den Dunnen
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