Disease #00297 (GCPS (cephalopolysyndactyly, Greig syndrome (GCPS)), OMIM:175700)

Official abbreviation GCPS
Name cephalopolysyndactyly, Greig syndrome (GCPS)
OMIM ID 175700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 55
Phenotype entries for this disease 55
Associated with 1 gene GLI3
Associated tissues -
Disease features -
Remarks -
Date created 2014-01-17 17:17:13 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

55 entries on 1 page. Showing entries 1 - 55.
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00004217 G029 PubMed: Demurger 2015 - - no (France) white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; MRI brain normal; no developmental delay; precocious puberty, scaphocephaly GLI3 GLI3 1 1 Tania Attie-Bitach
00004218 G070 PubMed: Demurger 2015 family, 2 affected F no France white - - - - GCPS hand bilateral postaxial polydactyly; left foot preaxial polydactyly; no syndactyly; macrocephaly; no developmental delay GLI3 GLI3 1 2 Tania Attie-Bitach
00004219 G118 PubMed: Demurger 2015 - M no (France) white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004222 G13684 PubMed: Demurger 2015 family, 3 affected F no - African - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; no developmental delay GLI3 GLI3 1 3 Tania Attie-Bitach
00004226 G099 PubMed: Demurger 2015 - F no France white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004227 G048 PubMed: Demurger 2015 - F no (France) - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly, hand bilateral preaxial polydactyly; ventricular dilatation; delta phalanx GLI3 GLI3 1 1 Tania Attie-Bitach
00004228 G15198 PubMed: Demurger 2015 - F no France white - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; feet bilateral preaxial polydactyly, hand bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; MRI brain normal; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004229 G079 PubMed: Demurger 2015 - F no (France) white - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; no developmental delay; atrial septal defect GLI3 GLI3 1 1 Tania Attie-Bitach
00004230 G088 PubMed: Demurger 2015 - F no France white 00y08m - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; no developmental delay; umbilical hernia GLI3 GLI3 1 1 Tania Attie-Bitach
00004231 G14083 PubMed: Demurger 2015 - F no France white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly, hand bilateral preaxial polydactyly; broad thumbs; syndactyly; no macrocephaly; no widely spaced eyes; bifid distal phalanx, birth weight 4150 GLI3 GLI3 1 1 Tania Attie-Bitach
00004232 G033 PubMed: Demurger 2015 - F no (France) white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004233 G076 PubMed: Demurger 2015 family, 3 affected M no France white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; MRI brain abnormailty; developmental delay; cerebral prematurity sequelae GLI3 GLI3 1 3 Tania Attie-Bitach
00004234 G068 PubMed: Demurger 2015 family, 3 affected M ? France white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; delta metacarpal, birth weight 4880 GLI3 GLI3 1 3 Tania Attie-Bitach
00004235 A018 PubMed: Demurger 2015 - ? no (France) - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; corpus callosum hypoplasia, ventricular dilatation; hypoplastic cerebellum, microretrognathism GLI3 GLI3 1 1 Tania Attie-Bitach
00004237 G094 PubMed: Demurger 2015 - M no (France) white - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004280 G16012 PubMed: Demurger 2015 family, 2 affected F no (France) - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; bilateral keratoconus, umbilical and bilateral inguinal hernia GLI3 GLI3 1 2 Tania Attie-Bitach
00004281 G109 PubMed: Demurger 2015 family, 3 affected F no (France) white - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; widely spaced eyes; macrosomia GLI3, SMC3 GLI3, SMC3 17 3 Tania Attie-Bitach
00004282 G056 PubMed: Demurger 2015 family, 2 affected F no (France) - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; developmental delay; neurofibromatosis type 1 GLI3 GLI3 1 2 Tania Attie-Bitach
00004283 G026 PubMed: Demurger 2015 - M no (France) - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly, hand bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; brachydactyly, delta phalanx GLI3 GLI3 1 1 Tania Attie-Bitach
00004284 G14331 PubMed: Demurger 2015 - M no India - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs, broad halluces; syndactyly; macrocephaly; widely spaced eyes; brachydactyly, speech delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004285 G111 PubMed: Demurger 2015 - M no (France) - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004286 G063 PubMed: Demurger 2015 - M no (Guadeloupe) - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; widely spaced eyes; ventricular dilatation; developmental delay; speech delay, exomphalos GLI3 GLI3 1 1 Tania Attie-Bitach
00004287 G003 PubMed: Demurger 2015 family, 3 affected M no (South Africa) - - - - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; widely spaced eyes; motor delay GLI3 GLI3 1 3 Tania Attie-Bitach
00004288 G051 PubMed: Demurger 2015 family, 2 affected M no (France) white - - - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes; partial corpus callosum agenesis; mild developmental delay GLI3 GLI3 1 2 Tania Attie-Bitach
00004289 A019 PubMed: Demurger 2015 - M no (France) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes; partial corpus callosum agenesis GLI3 GLI3 1 1 Tania Attie-Bitach
00004290 G004 PubMed: Demurger 2015 - F no (France) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; broad thumbs; no syndactyly; macrocephaly; widely spaced eyes; partial corpus callosum agenesis; developmental delay; umbilical hernia, anterior anus GLI3 GLI3 1 1 Tania Attie-Bitach
00004291 G002 PubMed: Demurger 2015 - M no (France) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; corpus callosum hypoplasia, ventricular dilatation; no developmental delay; laryngomalacia GLI3 GLI3 1 1 Tania Attie-Bitach
00004292 G006 PubMed: Demurger 2015 - M no (France) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; widely spaced eyes; corpus callosum hypoplasia; birth weight 4440 GLI3 GLI3 1 1 Tania Attie-Bitach
00004293 A017 PubMed: Demurger 2015 - M no (India) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes; corpus callosum hypoplasia; no developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004294 G016 PubMed: Demurger 2015 - F no (France) white - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; corpus callosum agenesis, ventricular dilatation; fine developmental delay GLI3 GLI3 1 1 Tania Attie-Bitach
00004295 G043 PubMed: Demurger 2015 family, 3 affected F no (France) - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; mild developmental delay; supernumerary nipples GLI3 GLI3 1 3 Tania Attie-Bitach
00004297 G114 PubMed: Demurger 2015 family, 2 affected M no France white - - - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; broad halluces; no syndactyly; macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 2 Tania Attie-Bitach
00374142 G070 mother PubMed: Demurger 2015 mother - - - - - - - - GCPS no postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374143 G13684 brother PubMed: Demurger 2015 brother - - - - - - - - GCPS no postaxial polydactyly; left foot preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374144 G13684 mother PubMed: Demurger 2015 mother - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374145 G076 mother PubMed: Demurger 2015 mother - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374146 G076 brother PubMed: Demurger 2015 brother - - - - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374147 G068 brother PubMed: Demurger 2015 brother - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; birth weight 4740 GLI3 GLI3 1 1 Johan den Dunnen
00374148 G068 father PubMed: Demurger 2015 father - - - - - - - - GCPS no postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374149 G16012 daughter PubMed: Demurger 2015 daughter - - - - - - - - GCPS no postaxial polydactyly; no preaxial polydactyly; broad thumbs; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; umbilical hernia GLI3 GLI3 1 1 Johan den Dunnen
00374150 G109 father PubMed: Demurger 2015 father - - - - - - - - GCPS no postaxial polydactyly; no preaxial polydactyly; broad halluces; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374151 G109 sister PubMed: Demurger 2015 sister - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes GLI3 GLI3 1 1 Johan den Dunnen
00374152 G056 father PubMed: Demurger 2015 father - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374153 G003 brother PubMed: Demurger 2015 brother - - - - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; broad thumbs; no syndactyly; macrocephaly; widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374154 G003 mother PubMed: Demurger 2015 mother - - - - - - - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374155 G051 mother PubMed: Demurger 2015 mother - - - - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes GLI3 GLI3 1 1 Johan den Dunnen
00374156 G043 father PubMed: Demurger 2015 father - - - - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes GLI3 GLI3 1 1 Johan den Dunnen
00374157 G043 brother PubMed: Demurger 2015 brother - - - - - - - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; right foot preaxial polydactyly; no syndactyly; mild developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374158 G114 sister PubMed: Demurger 2015 sister - - - - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374159 G019 PubMed: Demurger 2015 - - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; MRI brain normal thin corpus callosum; developmental delay; bilateral inguinal hernia, strabismus GLI3 GLI3 1 1 Johan den Dunnen
00374160 G005 PubMed: Demurger 2015 - - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; no macrocephaly; widely spaced eyes; MRI brain abnormailty; developmental delay; cataract, strabismus, vermis dysgenesis GLI3 GLI3 1 1 Johan den Dunnen
00374161 G028 PubMed: Demurger 2015 - - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; ventricular dilatation; developmental delay; seizures, strabismus, horseshoe kidney, birth weight 4280 GLI3 GLI3 1 1 Johan den Dunnen
00374162 G115 PubMed: Demurger 2015 - - - - - - - - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; MRI brain normal; no developmental delay GLI3 GLI3 1 1 Johan den Dunnen
00374163 G038 PubMed: Demurger 2015 - - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; ventricular dilatation; motor delay GLI3 GLI3 1 1 Johan den Dunnen
00374164 G059 PubMed: Demurger 2015 - - - - - - - - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; MRI brain normal; developmental delay; trigonocephaly, macrosomia GLI3 GLI3 1 1 Johan den Dunnen
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