All individuals with variants in gene GORAB

46 entries on 1 page. Showing entries 1 - 46.
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00289587 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00331467 14DG0734 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Generalized joint laxity, Hip dysplasia, Cutis laxa, Osteopenia 1 1 LOVD
00331468 08DG-00180 ,08DG-00181 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - skeletal dysplasia Joint laxity, Abnormal facial shape, Osteopenia, Progeroid facial appearance, Mandibular pYes 1 2 LOVD
00331469 11DG0067 ,11DG0211 , 11DG0212 , 11DG0213 PubMed: Maddirevula 2018 family, 4 affected (2F, 2M) F;M yes - Arab - - - - skeletal dysplasia Cutis laxa, Joint laxity, Abnormal heart morphology, Osteopenia, Fractures, Wormian bon No 1 4 LOVD
00331470 12DG1561 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Congenital bilateral hip dislocation, Hyperextensibility at wrists, Failure to thrive, Delayed Yes 1 1 LOVD
00331471 13DG0087 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Global developmental delay, Multiple renal cysts, Thickened superior cerebellar peduncle, Yes 1 1 LOVD
00331472 DG07-0016 , DG07-0019 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Cutis laxa, Joint laxity, Abnormal heart morphology, Kyphoscoliosis, Osteoporosis, Malar f No 1 2 LOVD
00331473 17DG0801 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Global developmental delay, Abnormal facial shape, Generalized joint laxity, Cutis laxa, KeNo 1 1 LOVD
00331474 10DG2135 , 10DG2136 PubMed: Maddirevula 2018 family, 2 affected (2M) M no - Arab - - - - skeletal dysplasia Osteopenia , Recurrent fractures 1 2 LOVD
00391136 - - - F - (United States) - - - - - F8D dvt 1 1 Jessica Easterday
00434915 OA PubMed: Hennies 2008 family - - Oman - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434916 P1 PubMed: Hennies 2008 family - - Pakistan - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434917 P2 PubMed: Hennies 2008 family - - Pakistan - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434918 GT1 PubMed: Hennies 2008 family - - Germany - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 2 1 Johan den Dunnen
00434919 LS PubMed: Hennies 2008 family - - Libya - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434920 IG Pico 1993, PubMed: Hennies 2008 patient - - Italy - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434921 GT2 PubMed: Hennies 2008 2-generation family, 4 affected (3F, M), unaffected heterozygous parents F;M yes Germany Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 4 Johan den Dunnen
00434922 GD1 PubMed: Hennies 2008 2-generation family, 4 affected (3F, M), unaffected heterozygous parents F;M yes Germany Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 4 Johan den Dunnen
00434923 FamI;FamCD1 PubMed: Hunter 1978, PubMed: Hennies 2008 5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents F;M yes Canada Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 4 Johan den Dunnen
00434924 MP PubMed: Hennies 2008 2-generation family, 3 affected (F, 2M), unaffected heterozygous parents F;M yes Mexico Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 3 Johan den Dunnen
00434925 UR42 PubMed: Hennies 2008 - - - United States - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 2 1 Johan den Dunnen
00434926 IR PubMed: Hennies 2008 - - - Italy - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434927 UT PubMed: Hennies 2008 - - - United States - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability 1 1 Johan den Dunnen
00434983 Fam1Pat1 PubMed: Al-Dosari 2009 4-generation family, affected sister/brother, unaffected heterozygous parents/relatives M yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology normal bone density; congenital dislocation hip 1 2 Johan den Dunnen
00434984 Fam1Pat2 PubMed: Al-Dosari 2009 older brother M - Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), reduced bone density; radiology kyphoscoliosis, cod-fish vertebrae, low Z score; recurrent fractures 1 1 Johan den Dunnen
00434985 Fam2Pat3 PubMed: Al-Dosari 2009 5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology minimally reduced bone density; one fracture, delayed closure of anterior fontanelle 1 2 Johan den Dunnen
00434986 Fam4Pat6 PubMed: Al-Dosari 2009 4-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); short stature; radiology minimal reduction in bone density 1 2 Johan den Dunnen
00434987 Fam3Pat5 PubMed: Al-Dosari 2009 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); congenital dislocation hip, recurrent fractures; radiology low Z score, abnormal cephalometric measurements 1 1 Johan den Dunnen
00434988 Fam4Pat7 PubMed: Al-Dosari 2009 sister F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); recurrent fracture; radiology low Z score, abnormal cephalometric measurements 1 1 Johan den Dunnen
00434989 Fam2Pat4 PubMed: Al-Dosari 2009 cousin M yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); fractures in childhood; radiology reduced bone density 1 1 Johan den Dunnen
00465824 Fam18 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, osteoporosis, good physical growth with typical gerodermia osteodysplastica facies (demonstrated by senile appearance caused by saggy cheeks and maxillary hypoplasia gives impression of prognathism) 1 2 Johan den Dunnen
00465825 Fam19 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, bilateral congenital dislocation hip and flat feet, significant osteopenia, hypotonia, dysmorphic features (progeroid face with decreased infraorbital fatty tissue, beaked nose, short philtrum) 1 2 Johan den Dunnen
00465826 Fam20 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, right congenital dislocation hip, severe osteopenia, short stature, dysmorphic features (saggy cheeks, long philtrum, crowding teeth) 1 2 Johan den Dunnen
00465827 Fam21 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 1 Johan den Dunnen
00465828 Fam22 PubMed: Alazami 2016 family, 4 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 4 Johan den Dunnen
00465829 Fam23 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones and dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 1 Johan den Dunnen
00465830 Fam24 PubMed: Alazami 2016 family, 3 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones and dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 3 Johan den Dunnen
00465831 Fam25 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Reduced skin elasticity with excessive wrinkling especially in the abdomen, joint laxity, congenital dislocation hip, motor delay, dysmorphic features (saggy cheeks, over folded upper pinnae) 1 1 Johan den Dunnen
00465832 Fam26 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, scoliosis, fractures, dysmorphic features (sagging face, malar hypoplasia, mandibular prognathism), morbid obesity, linear scleroderma, irregular periods, infertility, depression 1 1 Johan den Dunnen
00465833 Fam27 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, kyphoscoliosis, osteoporosis, fractures, dysmorphic features (senile appearance caused by droopy cheeks, prognathism, malar hypoplasia with significant crowding of maxillary teeth, aplastic lingual frenulum, prominent anteverted ears) 1 2 Johan den Dunnen
00465834 Fam28 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, bilateral talipes equinovarus, osteopenia, fractures and dysmorphic features (progeroid face with maxillary hypoplasia), subaortic stenosis 1 2 Johan den Dunnen
00465835 Fam29 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 1 Johan den Dunnen
00465836 Fam30 PubMed: Alazami 2016 family, 4 affected - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, thin bones, fractures, osteopenia, osteoporosis, Wormian bones, low vitamin D, bronchial asthma, dysmorphic features (progeroid faces with maxillary hypoplasia, mandibular prognathism) 1 4 Johan den Dunnen
00465837 Fam31 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, congenital dislocation hip, osteoporosis, thin bones, dysmorphic features (droopy face, maxillary hypoplasia, mandibular prognathism) 1 1 Johan den Dunnen
00465838 Fam32 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin laxity, fractures, osteopenia, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism) 1 1 Johan den Dunnen
00466835 Pat122 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI - 1 1 Johan den Dunnen
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