All individuals with variants in gene FRMPD4

13 entries on 1 page. Showing entries 1 - 13.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00173275 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 17 Lucy Raymond
00173276 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173277 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173278 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183177 25644381-FamP58 PubMed: Hu 2016 family, 5 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX mild to severe ID with variable seizures, lack of speech or poor speech, behavioral problems 1 5 Johan den Dunnen
00183178 25644381-FamL87 PubMed: Hu 2016 de novo M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00303634 Family 3 P8 PubMed: Piard 2018 2-generation family, 2 affected, unaffected carrier mother, mildly affected carrier sister M yes - White >18y 0 - - ID Delayed gross motor development (HP:0002194); Delayed speech and language development (HP:0000750); Intellectual disability, moderate (HP:0002342); Hyperactivity (HP:0000752); Ataxia (HP:0001251); Strabismus (HP:0000486); Seizure (HP:0001250) 1 2 Joaquin De La Torre Vela
00303635 Family 3 P9 PubMed: Piard 2018 - M yes - White >04y 0 - - ID Delayed gross motor development (HP:0002194); Delayed speech and language development (HP:0000750); Intellectual disability, moderate (HP:0002342); Hyperactivity (HP:0000752); Ataxia (HP:0001251); Strabismus (HP:0000486); Seizure (HP:0001250) 1 1 Joaquin De La Torre Vela
00303636 Family 4 P10 PubMed: Piard 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes - White >11y 0 - - ID Delayed gross motor development (HP:0002194); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0002342); Autism (HP:0000717);Strabismus (HP:0000486); Frontal upsweep of hair (HP:0002236); Trigonocephaly (HP:0000243); Wide nasal bridge (HP:0000431) 1 1 Joaquin De La Torre Vela
00303642 Family 2 P6 PubMed: Piard 2018 2-generation family, 2 affected, unaffected carrier mother M yes - White >17y 0 - - ID Delayed speech and language development (HP:0000750); Intellectual disability, moderate (HP:0002342); Hyperactivity (HP:0000752); Ataxia (HP:0001251); Strabismus (HP:0000486); Seizure (HP:0001250); Autism (HP:0000717) 1 2 Joaquin De La Torre Vela
00303643 Family 2 P7 PubMed: Piard 2018 brother P6 M yes - White >48y 0 - - ID Delayed speech and language development (HP:0000750); Intellectual disability, moderate (HP:0002342); Hyperactivity (HP:0000752); Ataxia (HP:0001251); Strabismus (HP:0000486); Seizure (HP:0001250); Autism (HP:0000717) 1 1 Joaquin De La Torre Vela
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