All individuals with variants in gene C22orf39

4 entries on 1 page. Showing entries 1 - 4.
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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
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