All individuals with variants in gene GLI3

94 entries on 1 page. Showing entries 1 - 94.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00004217 G029 PubMed: Demurger 2015 - - no (France) white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; MRI brain normal; no developmental delay; precocious puberty, scaphocephaly 1 1 Tania Attie-Bitach
00004218 G070 PubMed: Demurger 2015 family, 2 affected F no France white - 0 - - GCPS hand bilateral postaxial polydactyly; left foot preaxial polydactyly; no syndactyly; macrocephaly; no developmental delay 1 2 Tania Attie-Bitach
00004219 G118 PubMed: Demurger 2015 - M no (France) white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; no developmental delay 1 1 Tania Attie-Bitach
00004222 G13684 PubMed: Demurger 2015 family, 3 affected F no - African - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; no developmental delay 1 3 Tania Attie-Bitach
00004226 G099 PubMed: Demurger 2015 - F no France white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; no developmental delay 1 1 Tania Attie-Bitach
00004227 G048 PubMed: Demurger 2015 - F no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly, hand bilateral preaxial polydactyly; ventricular dilatation; delta phalanx 1 1 Tania Attie-Bitach
00004228 G15198 PubMed: Demurger 2015 - F no France white - 0 - - 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 1 1 Tania Attie-Bitach
00004229 G079 PubMed: Demurger 2015 - F no (France) white - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; no developmental delay; atrial septal defect 1 1 Tania Attie-Bitach
00004230 G088 PubMed: Demurger 2015 - F no France white 00y08m 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; no developmental delay; umbilical hernia 1 1 Tania Attie-Bitach
00004231 G14083 PubMed: Demurger 2015 - F no France white - 0 - - 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 1 1 Tania Attie-Bitach
00004232 G033 PubMed: Demurger 2015 - F no (France) white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; no developmental delay 1 1 Tania Attie-Bitach
00004233 G076 PubMed: Demurger 2015 family, 3 affected M no France white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; MRI brain abnormailty; developmental delay; cerebral prematurity sequelae 1 3 Tania Attie-Bitach
00004234 G068 PubMed: Demurger 2015 family, 3 affected M ? France white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; delta metacarpal, birth weight 4880 1 3 Tania Attie-Bitach
00004235 A018 PubMed: Demurger 2015 - ? no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; widely spaced eyes; corpus callosum hypoplasia, ventricular dilatation; hypoplastic cerebellum, microretrognathism 1 1 Tania Attie-Bitach
00004237 G094 PubMed: Demurger 2015 - M no (France) white - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; macrocephaly; no widely spaced eyes; no developmental delay 1 1 Tania Attie-Bitach
00004280 G16012 PubMed: Demurger 2015 family, 2 affected F no (France) - - 0 - - 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 1 2 Tania Attie-Bitach
00004281 G109 PubMed: Demurger 2015 family, 3 affected F no (France) white - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; widely spaced eyes; macrosomia 1 3 Tania Attie-Bitach
00004282 G056 PubMed: Demurger 2015 family, 2 affected F no (France) - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; developmental delay; neurofibromatosis type 1 1 2 Tania Attie-Bitach
00004283 G026 PubMed: Demurger 2015 - M no (France) - - 0 - - 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 1 1 Tania Attie-Bitach
00004284 G14331 PubMed: Demurger 2015 - M no India - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs, broad halluces; syndactyly; macrocephaly; widely spaced eyes; brachydactyly, speech delay 1 1 Tania Attie-Bitach
00004285 G111 PubMed: Demurger 2015 - M no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Tania Attie-Bitach
00004286 G063 PubMed: Demurger 2015 - M no (Guadeloupe) - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; widely spaced eyes; ventricular dilatation; developmental delay; speech delay, exomphalos 1 1 Tania Attie-Bitach
00004287 G003 PubMed: Demurger 2015 family, 3 affected M no (South Africa) - - 0 - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; widely spaced eyes; motor delay 1 3 Tania Attie-Bitach
00004288 G051 PubMed: Demurger 2015 family, 2 affected M no (France) white - 0 - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes; partial corpus callosum agenesis; mild developmental delay 1 2 Tania Attie-Bitach
00004289 A019 PubMed: Demurger 2015 - M no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes; partial corpus callosum agenesis 1 1 Tania Attie-Bitach
00004290 G004 PubMed: Demurger 2015 - F no (France) - - 0 - - 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 1 1 Tania Attie-Bitach
00004291 G002 PubMed: Demurger 2015 - M no (France) - - 0 - - 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 1 1 Tania Attie-Bitach
00004292 G006 PubMed: Demurger 2015 - M no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; macrocephaly; widely spaced eyes; corpus callosum hypoplasia; birth weight 4440 1 1 Tania Attie-Bitach
00004293 A017 PubMed: Demurger 2015 - M no (India) - - 0 - - 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 1 1 Tania Attie-Bitach
00004294 G016 PubMed: Demurger 2015 - F no (France) white - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; corpus callosum agenesis, ventricular dilatation; fine developmental delay 1 1 Tania Attie-Bitach
00004295 G043 PubMed: Demurger 2015 family, 3 affected F no (France) - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; mild developmental delay; supernumerary nipples 1 3 Tania Attie-Bitach
00004297 G114 PubMed: Demurger 2015 family, 2 affected M no France white - 0 - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; broad halluces; no syndactyly; macrocephaly; no widely spaced eyes; no developmental delay 1 2 Tania Attie-Bitach
00016382 P15112 PubMed: Demurger 2015 - M no France white - 0 - - PHS no growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; no intellectual disability; nail dysplasia; overlapping toes, preauricular tag 1 1 Tania Attie-Bitach
00016383 G097 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; genital anomalies; no lung dysplasia; no intellectual disability; micropenis, thin corpus callosum 1 1 Tania Attie-Bitach
00016384 G085 PubMed: Demurger 2015 family, 4 affected F ? Lebanon - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia 1 4 Tania Attie-Bitach
00016385 G121 PubMed: Demurger 2015 - F no (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia 1 1 Tania Attie-Bitach
00016386 G001 PubMed: Demurger 2015 - M no France white - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; no intellectual disability; sacrococcygeal teratoma, conical teeth, cryptorchidism, micropenis, syndactyly, unilateral renal agenesis, fine motor delay 1 1 Tania Attie-Bitach
00016387 G083 PubMed: Demurger 2015 family, 2 affected F - (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia 1 2 Tania Attie-Bitach
00016388 G082 PubMed: Demurger 2015 - M - (Lebanon) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; anal atresia; cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; no nail dysplasia; micropenis, choanal atresia, interventricular communication, fine DD 1 1 Tania Attie-Bitach
00016390 G044 PubMed: Demurger 2015 - M no France white - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; scoliosis, dental malposition 1 1 Tania Attie-Bitach
00016391 G072 PubMed: Demurger 2015 - M no France - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; oligohydramnios, syndactyly 1 1 Tania Attie-Bitach
00016392 GBUL PubMed: Demurger 2015 - M ? (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; intellectual disability; nail dysplasia; seizures, panhypopituitarism, developmental sexual disorder (karyotype 46xy, testis with an undeveloped genital tubercle), renal hypoplasia 1 1 Tania Attie-Bitach
00016393 G040 PubMed: Demurger 2015 - F - France white - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; syndactyly 1 1 Tania Attie-Bitach
00016394 G012 PubMed: Demurger 2015 - F no France white - 0 - - PHS growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; no lung dysplasia; agnathia, hypoplastic maxillary, absence of oral orifice, bilateral choanal atresia, oligosyndactyly, arthrogryposis, mesomelia bilateral radio-ulnar bowing, absence of tibia and fibula, bilateral renal agenesis, pituitary gland agenesis, adrenal agenesis, uterovaginal aplasia, atrioventricular communication, corpus callosum agenesis, microcephaly 1 1 Tania Attie-Bitach
00016395 G024 PubMed: Demurger 2015 - - no France white - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; no cardiac anomalies; renal anomalies; no genital anomalies; lung dysplasia; posterior cleft palate, micrognathia, micromelia, oligosyndactyly, club feet, adrenal gland hypoplasia, bilateral renal agenesis, anteposed anus 1 1 Tania Attie-Bitach
00016396 G013 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; nail dysplasia; bilateral choanal atresia, retrognathia, posterior cleft palate, ear dysplasia, cervical chondroma, syndactyly, adrenal and pituitary gland agenesis, micropenis, unilateral renal agenesis, abnormal aortic arch 1 1 Tania Attie-Bitach
00016397 G080 PubMed: Demurger 2015 - M no France white - 0 - - PHS growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; no brachytelephalangism/dactyly ; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; premaxillary agenesis, microretrognathism, arhinencephaly, hygroma colli, intestinal malrotation, micropenis, bilateral renal agenesis, iac, ivc, adrenal gland agenesis 1 1 Tania Attie-Bitach
00016398 G104 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; hypertelorism, retrognatism, cleft palate, oligosyndactyly, abnormal metacarpals, unilateral renal agenesis, micropenis, interauricular communication 1 1 Tania Attie-Bitach
00016399 G081 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; nail dysplasia; limited ankle mobility, syndactyly, hypopituitarism, micropenis, hypospadias, speech delay, gelastic seizures 1 1 Tania Attie-Bitach
00131956 - - - F ? China Chinese - 0 - - PAP hands bilateral post-axial polydactyly type B, feet bilateral post-axial polydactyly type A, wessel II pre-axial polydactyly in left feet 1 1 Rao Chunbao
00210184 - - - F - Germany - - 0 - - - HP:0000240 (Abnormality of skull size); HP:0000252 (Microcephaly) 1 1 Andreas Laner
00275692 - - - - - - - - 0 - - PHS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00294447 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 185 Mohammed Faruq
00294448 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 106 Mohammed Faruq
00294449 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00294450 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00294451 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294452 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00294453 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 176 Mohammed Faruq
00301082 - - - F - Germany - - 0 - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Abnormality of neuronal migration (HP:0002269); Gray matter heterotopias (HP:0002281) 1 1 Andreas Laner
00305159 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00305160 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305161 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305162 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00320158 - - - F - - - - 0 - - ? Intellectual disability (HP:0001249); Microcephaly (HP:0000252); Delayed speech and language development (HP:0000750); Short stature (HP:0004322); Syndactyly (HP:0001159); Low-set ears (HP:0000369); Synophrys (HP:0000664) 1 1 IMGAG
00331460 12DG0530, 12DG0531 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - Arab - 0 - - skeletal dysplasia Seizures, Polydactyly, High palate, Poor suck 1 2 LOVD
00374142 G070 mother PubMed: Demurger 2015 mother - - - - - 0 - - GCPS no postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374143 G13684 brother PubMed: Demurger 2015 brother - - - - - 0 - - GCPS no postaxial polydactyly; left foot preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374144 G13684 mother PubMed: Demurger 2015 mother - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no developmental delay 1 1 Johan den Dunnen
00374145 G076 mother PubMed: Demurger 2015 mother - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374146 G076 brother PubMed: Demurger 2015 brother - - - - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374147 G068 brother PubMed: Demurger 2015 brother - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; birth weight 4740 1 1 Johan den Dunnen
00374148 G068 father PubMed: Demurger 2015 father - - - - - 0 - - GCPS no postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374149 G16012 daughter PubMed: Demurger 2015 daughter - - - - - 0 - - GCPS no postaxial polydactyly; no preaxial polydactyly; broad thumbs; syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay; umbilical hernia 1 1 Johan den Dunnen
00374150 G109 father PubMed: Demurger 2015 father - - - - - 0 - - GCPS no postaxial polydactyly; no preaxial polydactyly; broad halluces; no syndactyly; no macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374151 G109 sister PubMed: Demurger 2015 sister - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; no macrocephaly; widely spaced eyes 1 1 Johan den Dunnen
00374152 G056 father PubMed: Demurger 2015 father - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no developmental delay 1 1 Johan den Dunnen
00374153 G003 brother PubMed: Demurger 2015 brother - - - - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; no preaxial polydactyly; broad thumbs; no syndactyly; macrocephaly; widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374154 G003 mother PubMed: Demurger 2015 mother - - - - - 0 - - GCPS hand bilateral postaxial polydactyly; no preaxial polydactyly; no syndactyly; no macrocephaly; no developmental delay 1 1 Johan den Dunnen
00374155 G051 mother PubMed: Demurger 2015 mother - - - - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes 1 1 Johan den Dunnen
00374156 G043 father PubMed: Demurger 2015 father - - - - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; macrocephaly; no widely spaced eyes 1 1 Johan den Dunnen
00374157 G043 brother PubMed: Demurger 2015 brother - - - - - 0 - - GCPS hand bilateral postaxial polydactyly, feet bilateral postaxial polydactyly; right foot preaxial polydactyly; no syndactyly; mild developmental delay 1 1 Johan den Dunnen
00374158 G114 sister PubMed: Demurger 2015 sister - - - - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; no developmental delay 1 1 Johan den Dunnen
00374159 G019 PubMed: Demurger 2015 - - - - - - 0 - - 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 1 1 Johan den Dunnen
00374160 G005 PubMed: Demurger 2015 - - - - - - 0 - - 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 1 1 Johan den Dunnen
00374161 G028 PubMed: Demurger 2015 - - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; broad thumbs; syndactyly; macrocephaly; ventricular dilatation; developmental delay; seizures, strabismus, horseshoe kidney, birth weight 4280 1 1 Johan den Dunnen
00374162 G115 PubMed: Demurger 2015 - - - - - - 0 - - GCPS hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; MRI brain normal; no developmental delay 1 1 Johan den Dunnen
00374163 G038 PubMed: Demurger 2015 - - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; no widely spaced eyes; ventricular dilatation; motor delay 1 1 Johan den Dunnen
00374164 G059 PubMed: Demurger 2015 - - - - - - 0 - - GCPS no postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; no widely spaced eyes; MRI brain normal; developmental delay; trigonocephaly, macrosomia 1 1 Johan den Dunnen
00374165 G085 father PubMed: Demurger 2015 father - - - - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; genital anomalies; no intellectual disability; micropenis 1 1 Johan den Dunnen
00374166 G085 aunt PubMed: Demurger 2015 aunt - - - - - 0 - - PHS insertional/postaxial polydactyly; brachytelephalangism/dactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia 1 1 Johan den Dunnen
00374167 G085 grand-mother PubMed: Demurger 2015 grand-mother - - - - - 0 - - PHS insertional/postaxial polydactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia 1 1 Johan den Dunnen
00374168 G083 father PubMed: Demurger 2015 father - - - - - 0 - - PHS growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia 1 1 Johan den Dunnen
Legend   How to query