All individuals with variants in gene BRWD3

29 entries on 1 page. Showing entries 1 - 29.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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) 13 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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) 15 1 Yu Sun
00173546 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173628 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00289312 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Toe walking (HP:0040083); Genu valgum (HP:0002857); Large fleshy ears (HP:0002265); Prominent forehead (HP:0011220); High palate (HP:0000218); Broad-based gait (HP:0002136); Macrocephaly (HP:0000256) 1 1 IMGAG
00295944 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929) 1 1 Andreas Laner
00307725 UK10K_FINDWGA5410888 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307726 UK10K_FINDWGA5410935 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00440469 PED2065.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00449829 Fam322 PubMed: Field 2007, Journal: Field 2007 3-generation family, 2 affected (male, uncle) M - Australia - - - - - ID see paper; ..., macrocephaly,prominent forehead, large cupped ears, mild-to-moderate intellectual disability; aunt mild cognitive difficulties during early childhood 1 2 Johan den Dunnen
00449830 Fam336 PubMed: Field 2007, Journal: Field 2007 3-generation family, 5 affected males, 3 unaffected carrier females M - Australia - - - - - ID see paper; ..., macrocephaly,prominent forehead, large cupped ears, mild-to-moderate intellectual disability 1 5 Johan den Dunnen
00449831 FamE;Fam328 PubMed: Gedeon 1994, PubMed: Field 2007, Journal: Field 2007 3-generation family, 5 affected (3 brothers, cousin, uncle) M - Australia - - - - - ID see paper; ..., borderline-to-mild intellectual disability, speech delay, no macrocephaly, no tall stature in childhood; large, prominent ears (ear length >2 SD), triangular face, pointed chin 1 5 Johan den Dunnen
00449832 Pat1 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 1 affected, unaffected carrier mother M - Spain - - - - - ID see paper; ..., X-linked intellectual disability, overgrowth 1 1 Johan den Dunnen
00449833 Pat2 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 1 affected, unaffected carrier mother M - Spain - - - - - ID see paper; ..., X-linked intellectual disability, overgrowth 1 1 Johan den Dunnen
00449834 FamPat3/4 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 2 affected brothers, unaffected non-carrier parents M - Spain - - - - - ID see paper; ..., X-linked intellectual disability, overgrowth 1 2 Johan den Dunnen
00449835 Pat5 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 1 affected, unaffected parents M - Spain - - - - - ID see paper; ..., X-linked intellectual disability, overgrowth 1 1 Johan den Dunnen
00449836 Fam15709Pat1 PubMed: Grotto 2014 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - ? see paper; ..., birth weight >97th, height 97th, OFC >97th, walk-18m; overweight (BMI 43.3), height >99th, OFC >99th; speech delay; intellectual disability; shyness, quick-tempered behavior; high forehead, deep-set eyes, hypertelorism, short palpebral fissures, anteverted nares, downturned corners of the mouth, pointed chin, underfolded helix; broad hands/feet; delayed puberty; muscular hypotonia; joint laxity, genu valgum, pes planus, scoliosis 1 1 Johan den Dunnen
00449837 FamW090806PatIII1 PubMed: Grotto 2014 3-generation family, 3 affected brothers/1 half-brother, 3 carrier females M - Estonia - - - - - ID see paper; ..., birth weight 3-97th, height 3-97th, walk-12m; overweight (BMI 28.7), height 50-90th, OFC >99th; speech delay; intellectual disability; shy and reserved with strangers; high and prominent forehead, wide eyebrows, high nasal bridge, upturned nose, high palate; wide tips fingers/toes; no muscular hypotonia; mild kyphosis 1 4 Johan den Dunnen
00449838 FamW090806PatIII2 PubMed: Grotto 2014 half-brother M - Estonia - - - - - ID see paper; ..., birth weight 3-97th, height 3-97th, walk-18m; weight normal, height 50th, OFC 90-95th; speech delay; intellectual disability; shy and reserved with strangers; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, bear shape nose, high palate, prominent chin, dysplastic ears; large hands/feet; no muscular hypotonia; cubitus valgus 1 1 Johan den Dunnen
00449839 FamW090806PatIII3 PubMed: Grotto 2014 half-brother M - Estonia - - - - - ID see paper; ..., birth weight 3-97th, height 3-97th, walk-12m; mild overweight (BMI 26.1), height 50-90th, OFC 99th; speech delay; intellectual disability; no behavioral disturbance; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, high nasal bridge, bear shape nose, high palate, anteverted prominent ears; large hands/feet, wide tips fingers/toes; no muscular hypotonia; cubitus valgus 1 1 Johan den Dunnen
00449840 FamW090806PatIII5 PubMed: Grotto 2014 half-brother M - Estonia - - - - - ID see paper; ..., birth weight 3-97th, height 3-97th, walk-18m; weight normal, height 50th, OFC 50th; speech delay; intellectual disability; shy and reserved with strangers; high forehead, broad and thick eyebrows, deep-set eyes, wide nasal bridge, prominent chin; wide first toe; no muscular hypotonia; scoliosis 1 1 Johan den Dunnen
00450276 COG0222 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head; mild intellectual disability; 1 1 Johan den Dunnen
00450277 COG1291 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450278 COG1785 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450279 COG0055 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head; mild intellectual disability; 1 1 Johan den Dunnen
00450280 COG0091 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450281 COG0800 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450282 COG1976 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head; moderate intellectual disability; 1 1 Johan den Dunnen
00458837 - - - M - - (not applicable) white - - - - NDD HP:0002342, HP:0001382, HP:0000098 1 1 Marketa Wayhelova
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