All individuals with variants in gene FGFR3

48 entries on 1 page. Showing entries 1 - 48.
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00016413 - PubMed: Makrythanasis 2014 4-generation family, 2 affected bothers, unaffected heterozygous carrier parents (cousins) and sister M yes Egypt - - 0 - - ? the proband and his brother are affected from a syndrome that comprises: tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly 1 2 Periklis Makrythanasis
00019780 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - MNKES - 1 1 Karen E. Heath
00019796 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - MNKES - 1 1 Karen E. Heath
00019816 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no China - - 0 - - Crouzon Crouzon syndrome with acanthosis nigricans 1 1 Karen E. Heath
00019817 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon Crouzon syndrome with acanthosis nigricans 1 1 Karen E. Heath
00019818 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon Crouzon syndrome with acanthosis nigricans 1 1 Karen E. Heath
00019819 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Crouzon Crouzon syndrome with acanthosis nigricans 1 1 Karen E. Heath
00019826 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Crouzon - 1 1 Karen E. Heath
00035805 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035806 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035807 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035808 - - - - - Germany - - 0 - - ? hypochondroplasia 1 1 Andreas Laner
00035809 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035810 - - - - - Germany - - 0 - - ? thanatophoric dysplasia 1 1 Andreas Laner
00035811 - - - - - Germany - - 0 - - myopathy, mitochondrial Muenke syndrome 1 1 Andreas Laner
00035812 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035813 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035814 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035815 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035816 - - - - - Germany - - 0 - - ? hypochondroplasia 1 1 Andreas Laner
00035817 - - - - - Germany - - 0 - - ? thanatophoric dysplasia 1 1 Andreas Laner
00035818 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050680 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly 1 2 Johan den Dunnen
00152011 - - - - - - - - 0 - - CRS sagittal craniosynostosis (HP:0004442) 1 1 Anshuman Sewda
00293588 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 71 Mohammed Faruq
00293590 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 71 Mohammed Faruq
00293591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293592 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293593 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00293594 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 52 Mohammed Faruq
00304989 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304990 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304991 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304992 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00306132 66 - - M - China - - - - - Hypochondroplasia - 1 1 Sha Hong
00331439 16DG0575 PubMed: Maddirevula 2018 isolated case F - - Arab - 0 - - skeletal dysplasia Craniosynostosis, Proptosis 1 1 -
00331440 14DG1402 PubMed: Maddirevula 2018 isolated case M yes - Arab - 0 - - skeletal dysplasia Delayed speech and language development, Short stature, Relative macrocephaly, Promin Yes 1 1 -
00331441 15DG2526 PubMed: Maddirevula 2018 family F no - Arab - 0 - - skeletal dysplasia Skeletal dysplasia, Depressed nasal bridge, Short neck, Narrow chest 1 1 -
00331442 09DG01262, 09DG01263 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - Arab - 0 - - skeletal dysplasia Disproportionate short stature 1 2 -
00331443 10DG1975 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - skeletal dysplasia Disproportionate short stature, Relative macrocephaly, Hyperreflexia 1 1 -
00331444 13DG1406 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - skeletal dysplasia Short stature, Frontal bossing, Trigonocephaly, Rhizomelia, Osteopenia, Kyphosis 1 1 -
00331445 14DG0080 PubMed: Maddirevula 2018 isolated case F no - Arab - 0 - - skeletal dysplasia Short stature, Macrocephaly 1 1 -
00331446 14DG0701 PubMed: Maddirevula 2018 isolated case F - - Arab - 0 - - skeletal dysplasia Depressed nasal bridge, Relative macrocephaly, Frontal bossing, Midface retrusion, Triden Yes 1 1 -
00331447 14DG0737 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - skeletal dysplasia Macrocephaly, Short stature, Global developmental delay, Midface retrusion, Trident ha Yes 1 1 -
00331448 14DG1452, 14DG1453 PubMed: Maddirevula 2018 family, 2 affected (2M) M no - Arab - 0 - - skeletal dysplasia Short stature, Delayed speech and language development, Macrocephaly, Prominent fore No 1 2 -
00332566 LADD-AlaPatIII4 PubMed: Rohmann 2006 3-generation family, 3 affected (F, 2M) F;M - Turkey - - 0 - - LADD alacrima, aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, conjunctivitis; cup-shaped ear, small ears, hearing loss; peg-shaped teeth, microdontia, hypodontia, root anomalies, dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia) 1 3 Johan den Dunnen
00359647 Pat5 PubMed: Tang 2021 fetus - - China - - 0 - - skeletal dysplasia 25w-fetus narrow thorax, short long bones, femur length 24 mm, humerus length 17.6 mm, short rib 1 1 Johan den Dunnen
00359658 Pat16 PubMed: Tang 2021 fetus - - China - - 0 - - skeletal dysplasia fetus short long bones 1 1 Johan den Dunnen
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