All individuals with variants in gene FGFR2

67 entries on 1 page. Showing entries 1 - 67.
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     
00017818 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain white - 0 - - Crouzon - 1 1 Karen E. Heath
00017819 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain white - 0 - - Crouzon - 1 1 Karen E. Heath
00017820 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00017821 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019774 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019775 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019776 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019777 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M - Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019778 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019779 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019780 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - MNKES - 1 1 Karen E. Heath
00019781 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019782 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F ? Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019783 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019784 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019785 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019786 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019787 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019788 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019789 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019790 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019792 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019793 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019794 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019795 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019798 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no - - - 0 - - Apert - 1 1 Karen E. Heath
00019799 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Apert - 1 1 Karen E. Heath
00019800 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019801 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019802 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019803 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019804 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019805 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no (Spain) Morocco - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019806 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no (Spain) Morroco ? 0 - - Pfeiffer - 1 1 Karen E. Heath
00019807 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019808 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019809 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019810 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019811 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - Pfeiffer - 1 1 Karen E. Heath
00019823 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - ? 0 - - BSTVS - 1 1 Karen E. Heath
00019825 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - BSTVS - 1 1 Karen E. Heath
00019827 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019828 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019829 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019830 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00019831 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00024242 - PubMed: Gilissen 2014 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00050476 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - 0 Decipher - ? clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth 1 2 Johan den Dunnen
00050520 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? upper limb phocomelia, aplasia/hypoplasia of the thumb, patent ductus arteriosus, vesicoureteral reflux, conical incisor, abnormality of tear glands or tear production, feeding difficulties in infancy, proportionate short stature, global developmental delay, intrauterine growth retardation 1 1 Johan den Dunnen
00181106 - - - M ? Sri Lanka - - 0 - - Apert Corpus callosum agenesis, small brain, mesocardia, syndactylies on hand and feet 1 1 Isabel Filges
00231542 Pat308 PubMed: Eggers 2016 - - - - - - 0 - - DSD ovotesticular 1 1 Johan den Dunnen
00231552 Pat125 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00248147 - - - M - - - - 0 - - - HP:0001159 (Syndactyly) 1 1 Andreas Laner
00302991 Pat36 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset infantile 1 1 Johan den Dunnen
00331438 DG08RC00033 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - skeletal dysplasia Abnormality of the face, Caudal appendage, Syndactyly, Natal teeth, Choanal atresia, DyspYes 1 1 LOVD
00332561 LADD-IstPatIII4 PubMed: Rohmann 2006 4-generation family, 7 affected (3F, 4M) F;M - Turkey - - 0 - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) 1 7 Johan den Dunnen
00332562 LADD-NijPatIII4 PubMed: Rohmann 2006 3-generation family, 6 affected (3F, 3M) F;M - Netherlands - - 0 - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism 1 6 Johan den Dunnen
00332563 LADD-LePatI2 PubMed: Rohmann 2006 3-generation family, 6 affected (5F, M) F;M - England - - 0 - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism 1 6 Johan den Dunnen
00332564 LADD-BeSpo PubMed: Rohmann 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - 0 - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism 1 1 Johan den Dunnen
00334952 - - - M no Saudi Arabia - - - - - Apert - 1 1 Malak Alghamdi
00334954 - - - M no Saudi Arabia - - - - - Apert - 1 1 Malak Alghamdi
00334955 - - - F yes Saudi Arabia - - - - - Apert - 1 1 Malak Alghamdi
00335045 - - - F yes Saudi Arabia - - - - - Pfeiffer - 1 1 Malak Alghamdi
00335046 - - - M no Saudi Arabia - - - - - Crouzon - 1 1 Malak Alghamdi
00358831 176740 - - F - Germany - - 0 - - Crouzon Crouzon syndrome, craniosynostosis, scoliosis, exophthalmos, limited elbow extension, right eye almost blind, left eye visual acuity approx. 2%, no hearing loss, father, brother and his daughter also affected. 1 1 Andreas Laner
00374111 - PubMed: Lefebvre 2021 fetus F - France - - 0 - - ? 23w-fetus, ultrasound Craniostenosis, ventriculomegaly, vertebral segmentation defect; autopsy intrauterine growth retardation, craniostenosis, facial dysmorphism, cervical and thoracic haemivertebrae, bilateral ventriculomegaly, bifid uterus; Normal thumbs, no radial-ulnar synostosis 1 1 Johan den Dunnen
00402813 APEC-Patient 4 unpublished Familial case, father (unaffected heterozygous carrier) M no Mexico - - 0 - none LADD corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail. 1 1 Miriam Erandi Reyna-Fabián
Legend   How to query