All individuals with variants in gene SNAP29

9 entries on 1 page. Showing entries 1 - 9.
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00050438 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart 1 2 Johan den Dunnen
00050514 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema 1 1 Johan den Dunnen
00050542 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay 1 1 Johan den Dunnen
00050613 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy 1 1 Johan den Dunnen
00080888 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (OMIM:609528) 1 1 Daniel Trujillano
00293068 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 16 Mohammed Faruq
00293069 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 92 Mohammed Faruq
00304890 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00374507 S-5854 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Global developmental delay, spastic paraparesis, positive cerebellar signs and peeling of skin. Brain MRI showed hypomyelination 2 1 Johan den Dunnen
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