All individuals with variants in gene CHRNG

44 entries on 1 page. Showing entries 1 - 44.
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00035244 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035245 - - - - - Germany - - 0 - - ? familiar Escobar syndrome; daughter: Escobar syndrome-affection;parents are cousins; MGZ #62984: DD hereditary neuropathy, multifokale sensomotorische demyelinisierende axonale PNP, 1 1 Andreas Laner
00117822 - PubMed: Hoffmann 2006 - - - Oman - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117823 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117824 - PubMed: Vogt 2011 - - - Ireland Irish - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117825 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Brazil - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117826 - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117827 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117828 - PubMed: Hoffmann 2006 - - - Switzerland - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117829 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - (Spanish / Portuguese ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117830 - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117831 - PubMed: Morgan 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - - Arab - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal 1 1 Johan den Dunnen
00117832 - PubMed: Morgan 2006 - - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117833 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117834 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 2 1 Johan den Dunnen
00117835 - PubMed: Vogt 2011 - - - - White Mixed (South American ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117836 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117837 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117838 - PubMed: Vogt 2011 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117839 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117840 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117841 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117842 - PubMed: Hoffmann 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - Lebanon - - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal 1 1 Johan den Dunnen
00117843 - PubMed: Hoffmann 2006 - - - Turkey - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117844 - PubMed: Morgan 2006 - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117845 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117846 - PubMed: Hoffmann 2006 - - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117847 - - - M yes Turkey Turkish - 0 - - EVMPS multiple pterygium syndrome, Escobar variant; EVMPS 1 1 Selma Demir Ulusal
00117848 - PubMed: Hoffmann 2006 One affected deceased, cause unspecified. - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117849 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Somalia Somalian - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117850 - PubMed: Vogt 2011 - - - Algeria Algerian - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117851 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 2 1 Florian Erger
00208753 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - EVMPS see paper; ... 1 3 Johan den Dunnen
00248337 Fam15 PubMed: Todd 2015 - - - - - - 0 - - NMD see paper; … 1 1 Johan den Dunnen
00292640 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 185 Mohammed Faruq
00292641 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 58 Mohammed Faruq
00300249 - - - M - - - - 0 - - ? Cryptorchidism (HP:0000028); Abnormality of the face (HP:0000271); Limb joint contracture (HP:0003121); Abnormality of the skeletal system (HP:0000924); Short stature (HP:0004322); Short neck (HP:0000470); Rocker bottom foot (HP:0001838); Abnormality of the musculature (HP:0003011) 1 1 Andreas Laner
00304797 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00304798 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00307181 - Ravenscroft 2020, submitted - - - Australia - - 0 - - FADS see paper; ... 1 1 Gianina Ravenscroft
00307195 - Ravenscroft 2020, submitted - - - Australia - - 0 - - DA see paper; ... 1 1 Gianina Ravenscroft
00307200 - Ravenscroft 2020, submitted - - - Australia - - 0 - - DA see paper; ... 1 1 Gianina Ravenscroft
00307231 - Ravenscroft 2020, submitted - - - Australia - - 0 - - FADS see paper; ... 2 1 Gianina Ravenscroft
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