All individuals with variants in gene QRICH1

38 entries on 1 page. Showing entries 1 - 38.
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00374999 Decipher276551 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 40w, weight 3.8 kg (75th centile); height 122.7cm (9th-25th), weight 23.3kg (25th), OFCcm 51 (10th); flat malar region, prominent nose, smooth philtrum, wide mouth, thin upper lip, protruberant lower lip; mild developmental delay/intellectual disability; walk-14m; speech first words 24-30m; autism; no raised CK 1 1 Johan den Dunnen
00375000 Decipher272334 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L 1 1 Johan den Dunnen
00375001 Decipher270803 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 38w, weight 2.4 kg (2nd-9th centile); height 114.4cm (−3 SD), weight 17.7kg (−4 SD), OFC 46cm (−6 SD); brachycephaly, upslanting palpebral fissures, prominent broad nose, broad nasal tip, wide mouth, thin upper lip, low-set cup-shaped ears; mild developmental delay/intellectual disability; walk-22m; speech first words 24-30m; no autism; 18m-raised CK 444 U/L 1 1 Johan den Dunnen
00375002 patient PubMed: Lui 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - stature, short see paper; ... 1 1 Johan den Dunnen
00375529 patient PubMed: Baruch 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Israel - - - - - ? see paper; ..., maladaptive behavior, sensory hypersensitivity, slow linear growth, hyperactive, distractible, impulsive, inattentive; speech, initially delayed, is fair, verbal comprehension age adequate 1 1 Johan den Dunnen
00375530 Pat1 PubMed: Föhrenbach 2021 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - ? see paper; ... 1 1 Johan den Dunnen
00375531 Pat2 PubMed: Föhrenbach 2021 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - ? see paper; ... 1 1 Johan den Dunnen
00375532 Pat3 PubMed: Föhrenbach 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Viet Nam - - - - - ? see paper; ... 1 1 Johan den Dunnen
00375534 Pat4 PubMed: Föhrenbach 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - ? see paper; ... 1 1 Johan den Dunnen
00375535 DECIPHER? PubMed: Lui 2019 - M no United Kingdom (Great Britain) - - - - - ? short stature (−1.3 SD), mild motor delay, mild speech delay; transposition great vessels, 4w-successfully repaired; wide mouth, thin upper lip, mildly bulbous nose, large ears, bilateral clinodactyly; bone age radiograph irregular metaphyseal boundaries proximal phalangeal growth plates 1 1 Johan den Dunnen
00375538 Pat1 Tümer 2021, submitted patient M - - - - - - - ? no intellectual disability; autism; no motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 8y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375539 Pat2 Tümer 2021, submitted patient M - - - - - - - ? mild intellectual disability; autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375540 Pat5 Tümer 2021, submitted family, affected father/child M - - - - - - - ? no intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; short stature (<-2SD), growth hormone responsive; low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 2 Zeynep Tümer
00375541 Pat6 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375542 Pat7 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375543 Pat8 Tümer 2021, submitted patient F - - - - - - - ? mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375544 Pat10 Tümer 2021, submitted patient M - - - - - - - ? moderate intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 5y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375545 Pat11 Tümer 2021, submitted family, affected mother/child M - - - - - - - ? mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 2 Zeynep Tümer
00375546 Pat12 Tümer 2021, submitted family, affected father/child F - - - - - - - ? mild/moderate intellectual disability; no autism; no motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 6y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 2 Zeynep Tümer
00375547 Pat13 Tümer 2021, submitted patient M - - - - - - - ? moderate/severe intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375548 Pat14 Tümer 2021, submitted patient M - - - - - - - ? mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375549 Pat15 Tümer 2021, submitted patient M - - - - - - - ? mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; 14y-seizures; hypotonia; elevated CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375550 Pat16 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD), growth hormone unresponsive; low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 6m-seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375551 Pat17 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375552 Pat18 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375553 Pat19 Tümer 2021, submitted patient F - - - - - - - ? mild intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; 6y- seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375554 Pat21 Tümer 2021, submitted patient M - - - - - - - ? mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375555 Pat23 Tümer 2021, submitted patient M - - - - - - - ? moderate intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375556 Pat24 Tümer 2021, submitted patient F - - - - - - - ? no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD), growth hormone responsive; no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375557 Pat25 Tümer 2021, submitted family, affected father/child M - - - - - - - ? moderate intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 2 Zeynep Tümer
00375558 Pat26 Tümer 2021, submitted patient M - - - - - - - ? no intellectual disability; autism; motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 9y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375559 Pat27 Tümer 2021, submitted patient M - - - - - - - ? no autism; motor delay; no language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375560 Pat28 Tümer 2021, submitted patient M - - - - - - - ? no intellectual disability; autism; motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375561 Pat30 Tümer 2021, submitted patient M - - - - - - - ? no intellectual disability; autism; no motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375562 Pat31 Tümer 2021, submitted patient F - - - - - - - ? mild intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375563 Pat33 Tümer 2021, submitted patient F - - - - - - - ? moderate intellectual disability; autism; no motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 1y6m-seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; renal abnormalities; structural brain abnormalities 1 1 Zeynep Tümer
00375564 Pat34 Tümer 2021, submitted patient F - - - - - - - ? mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
00375565 Pat38 Tümer 2021, submitted patient M - - - - - - - ? mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities 1 1 Zeynep Tümer
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