All individuals with variants in gene FBXO11

50 entries on 1 page. Showing entries 1 - 50.
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00155299 Individual 1 - - M - - - - 0 - - - - 1 1 Jessica Becker
00155301 Individual 2 - - M - - - - 0 - - - - 1 1 Jessica Becker
00164325 Jansen et al. Patient 1 Jansen, submitted - M - - - - 0 - - ID hyperactivity (HP:0000752), hypotonia (HP:0001290), dysmorphism (HP:0001999), joint laxity (HP:0001388); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263) 2 1 Lisenka Vissers
00164340 Jansen et al. Patient 2 Jansen, submitted - M - - - - 0 - - ID ASD (HP:0000729), hypotonia (HP:0001290), facial dysmorphism (HP:0001999), hypospadia (HP:0000047); moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164341 Jansen et al. Patient 3 Jansen, submitted - F - - - - 0 - - ID mild intellectual disability (HP:0001256); global developmental delay (HP:0001263) 1 1 Lisenka Vissers
00164342 Jansen et al. Patient 4 Jansen, submitted - M - - - - 0 - - ID ASD (HP:0000729); facial dysmorphism (HP:0001999),; CVI (HP:0100704); borderline intellectual disability (HP:0006889); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164343 Jansen et al. Patient 5 Jansen, submitted - F - - - - 0 - - ID ASD (HP:0000729), ; ADHD (HP:0007018),; hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164346 Jansen et al. Patient 8 Jansen, submitted - M - - - - 0 - - ID epilepsy (HP:0001250); hypotonia (HP:0001290),; Talipes equinovarus (HP:0001762); facial dysmorphism (HP:0001999),; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164347 Jansen et al. Patient 9 Jansen, submitted - M - - - - 0 - - ID epilepsy (HP:0001250); hypotonia (HP:0001290),; anxiety (HP:0000739); facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164348 Jansen et al. Patient 10 Jansen, submitted - F - - - - 0 - - ID Diabetes mellitus (HP:0100651); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164349 Jansen et al. Patient 11 Jansen, submitted - M - - - - 0 - - ID hypotonia (HP:0001290),; obesity (HP:0001513),; Nasolacrimal duct obstruction (HP:0000579); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164350 Jansen et al. Patient 12 Jansen, submitted - M - - - - 0 - - ID ADHD (HP:0007018),; Sleep apnea (HP:0010535),; hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164351 Jansen et al. Patient 13 Jansen, submitted - F - - - - 0 - - ID hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164352 Jansen et al. Patient 14 Jansen, submitted - M - - - - 0 - - ID facial dysmorphism (HP:0001999),; Overweight (HP:0025502); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164353 Jansen et al. Patient 15 Jansen, submitted - M - - - - 0 - - ID ASD (HP:0000729), ; hypotonia (HP:0001290),; epilepsy (HP:0001250); severe intellectual disability (HP:0010864); no motor delay (-HP:0001270); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164354 Jansen et al. Patient 16 Jansen, submitted - M - - - - 0 - - ID hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; atrial septal defect (HP:0001631); hydronephrosis (HP:0000126); metopic craniosysnostosis (HP:0011330); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164355 Jansen et al. Patient 17 Jansen, submitted - M - - - - 0 - - ID hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164356 Jansen et al. Patient 18 Jansen, submitted - M - - - - 0 - - ID facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256); no motor delay (-HP:0001270); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164357 Jansen et al. Patient 19 Jansen, submitted - M - - - - 0 - - ID facial dysmorphism (HP:0001999),; anxiety (HP:0000739); mild intellectual disability (HP:0001256); no motor delay (-HP:0001270); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164358 Jansen et al. Patient 20 Jansen, submitted - M - - - - 0 - - ID hyperactivity (HP:0000752), ; facial dysmorphism (HP:0001999),; tracheomalacia (HP:0002779); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164359 Jansen et al. Patient 21 Jansen, submitted - M - - - - 0 - - ID short stature (HP:0004322); Chiari malformation (HP:0002308); syringomyelia (HP:0003396); facial dysmorphism (HP:0001999),; cafe-au-lait spots (HP:0000957); inguinal freckling (HP:0030052); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00164360 Jansen et al. Patient 22 Jansen, submitted - M - - - - 0 - - ID facial dysmorphism (HP:0001999),; mild intellectual disability (HP:0001256) 1 1 Lisenka Vissers
00164361 Jansen et al. Patient 23 Jansen, submitted - M - - - - 0 - - ID ASD (HP:0000729); borderline intellectual disability (HP:0006889) 1 1 Lisenka Vissers
00164362 Jansen et al. Patient 24 Jansen, submitted - M - - - - 0 - - ID ASD (HP:0000729); borderline intellectual disability (HP:0006889) 1 1 Lisenka Vissers
00165141 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - 0 - - ID see paper; … 1 1 Christiane Zweier
00165142 - PubMed: Gregor 2018, Journal: Gregor 2018 - F - - - - 0 - - ID see paper; … 1 1 Christiane Zweier
00165143 - PubMed: Gregor 2018, Journal: Gregor 2018 - ? - - - - 0 - - ID see paper; … 1 1 Christiane Zweier
00165144 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - 0 - - ID see paper; … 1 1 Christiane Zweier
00165145 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165146 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165147 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165148 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165149 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165150 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165151 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165152 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165153 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165154 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165155 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165156 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165157 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00165158 - PubMed: Gregor 2018, Journal: Gregor 2018 - - - - - - - - - ID see paper; … 1 1 Christiane Zweier
00183654 29796876-Pat1 PubMed: Fritzen 2018, Journal: Fritzen 2018 - M - Germany - - 0 - - ID see paper; ... 1 1 Johan den Dunnen
00183655 29796876-Pat2 PubMed: Fritzen 2018, Journal: Fritzen 2018 - M - Germany - - 0 - - ID see paper; ... 1 1 Johan den Dunnen
00183688 27620904-Pat33 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00222829 - - - F - - - - 0 - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00265425 - - - M - - - - 0 - - ? Epicanthus (HP:0000286) 1 1 IMGAG
00295938 - - - F - - - - 0 - - IDDFBA Cleft palate (HP:0000175); Microcephaly (HP:0000252); Telecanthus (HP:0000506); Intellectual disability (HP:0001249); Supernumerary nipple (HP:0002558) 1 1 IMGAG
00320155 - - - M - - - - 0 - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Difficulty walking (HP:0002355); Microcephaly (HP:0000252); Strabismus (HP:0000486); Hypotelorism (HP:0000601); Long philtrum (HP:0000343); Thin upper lip vermilion (HP:0000219); Encopresis (HP:0040183); Long eyelashes (HP:0000527) 1 1 IMGAG
00362014 177941 - - M ? Germany - - 0 - - IDDFBA (+) Microcephaly,(+) Abnormality of the face,(+) Abnormality of the pinna,(+) Macrotia,(+) Abnormal eyelid morphology,(+) Muscular hypotonia,(+) Global developmental delay 1 1 Andreas Laner
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