All individuals with variants in gene WARS

30 entries on 1 page. Showing entries 1 - 30.
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00408321 Fam1Ind1 PubMed: Lin 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ? This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1. 1 2 Barbara Vona
00408322 Fam1Ind2 PubMed: Lin 2022 sister F yes Pakistan - - - - - ? This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1. 1 1 Barbara Vona
00408325 Fam2Ind3 PubMed: Lin 2022 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ? This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1. 1 1 Barbara Vona
00409258 FamAPatII3 PubMed: Tsai 2017 3-generation family, 6 affected (3F, 3M) M - Taiwan China;Han - - - - HMN see paper; ... 1 3 Johan den Dunnen
00409259 FamAPatIII2 PubMed: Tsai 2017 daughter F - Taiwan China;Han - - - - HMN see paper; ... 1 1 Johan den Dunnen
00409260 FamAPatIII3 PubMed: Tsai 2017 son M - Taiwan China;Han - - - - HMN see paper; ... 1 1 Johan den Dunnen
00409261 FamBPaII2 PubMed: Tsai 2017 3-generation family, 3 affected (3M) M - Taiwan - - - - - HMN see paper; ... 2 3 Johan den Dunnen
00409262 FamBPaIII1 PubMed: Tsai 2017 son M - Taiwan - - - - - HMN see paper; ... 2 1 Johan den Dunnen
00409263 FamBPaIII2 PubMed: Tsai 2017 son M - Taiwan - - - - - HMN see paper; ... 2 1 Johan den Dunnen
00409264 FamCPatII1 PubMed: Tsai 2017 2-generation family, 3 affected (F, 2M) F - Belgium white - - - - HMN see paper; ... 1 1 Johan den Dunnen
00409265 patient PubMed: Li 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China Han - - - - HMN see paper; ..., 10y-progressive weakness and muscle atrophy of the lower limbs 1 1 Johan den Dunnen
00409266 FamPatI1 PubMed: Wang 2019 3-generation family, 5 affected (2F, 3M) M - China Han - - - - HMN see paper; ..., abnormal gait; distal weakness upper limbs 3, 4, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes reduced upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 10 1 5 Johan den Dunnen
00409267 FamPatII1 PubMed: Wang 2019 son M - China Han - - - - HMN see paper; ..., abnormal gait; distal weakness upper limbs 3, 3, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 9 1 1 Johan den Dunnen
00409268 FamPatII3 PubMed: Wang 2019 son M - China Han - - - - HMN see paper; ..., abnormal gait; distal weakness upper limbs 3, 3, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes reduced upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 9 1 1 Johan den Dunnen
00409269 FamPatIII1 PubMed: Wang 2019 granddaughter F - China Han - - - - HMN see paper; ..., abnormal gait; distal weakness upper limbs 4, 5, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 4; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; no sensory findings upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 8 1 1 Johan den Dunnen
00409270 FamPatIII2 PubMed: Wang 2019 granddaughter F - China Han - - - - HMN see paper; ..., abnormal gait; distal weakness upper limbs 4, 4, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 3; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; hypoalgesia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 6 1 1 Johan den Dunnen
00409272 Pat1 PubMed: Okamoto 2022 - F - Japan - - - - - ? see paper; ..., intellectual disability, epilepsy, microcephaly 2 1 Johan den Dunnen
00409290 FamFC377 PubMed: Nam 2022 4-generation family, affected father/daughter F;M - Korea - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00409291 FamFC145 PubMed: Nam 2022 2-generation family, affected mother/2 sons F;M - Korea - - - - - CMT see paper; ... 1 3 Johan den Dunnen
00409292 FamFC825 PubMed: Nam 2022 4-generation family, 10 affected (5F, 5M) F;M - Korea - - - - - CMT see paper; ... 1 10 Johan den Dunnen
00409293 FamFC855 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00409294 FamFC1065 PubMed: Nam 2022 4-generation family, 8 affected (2F, 6M) F;M - Korea - - - - - CMT see paper; ... 1 8 Johan den Dunnen
00409295 FamFC1125 PubMed: Nam 2022 2-generation family, affected mother/son F;M - Korea - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00409296 FamFC1086 PubMed: Nam 2022 2-generation family, affected mother/daughter F - Korea - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00409297 FamFC357 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00409298 FamFC862 PubMed: Nam 2022 3-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00409299 FamFC885 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00409300 FamFC415 PubMed: Nam 2022 3-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00409301 FamFC301 PubMed: Nam 2022 2-generation family, affected mother/son F;M - Korea - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00409302 FamFC633 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - CMT see paper; ... 1 1 Johan den Dunnen
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