All individuals with variants in gene PRODH

6 entries on 1 page. Showing entries 1 - 6.
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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
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
00181186 62075 - - F no Switzerland ancestors from Switzerland and South Italy - 0 - - EE - 2 1 Anaïs Begemann
00269476 - - - - - - - - 0 - - EE Epileptic Encephalopathy (HP:0200134) 2 1 Francesca Bisulli
00293063 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 101 Mohammed Faruq
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