All individuals with variants in gene TMEM8C

18 entries on 1 page. Showing entries 1 - 18.
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00269292 03480 PMID: 32333597 DOI: 10.3233/JND-200477 - M no - - >03y - - - CFZS - 2 1 Sara Alvarez
00274325 Fam1Pat1 PubMed: Di Gioia 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - United States white 37y - - - ? 37y-deceased; facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; hypoglossia; scoliosis; pulmonary hypertension; CPK normal; EMG myopathic 2 2 Johan den Dunnen
00274326 Fam1Pat2 PubMed: Di Gioia 2017 - M - United States white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; palate high/cleft; gastro/jejunostomy; no thin tubular neck; pectoralis hypoplasia; hypoglossia; scoliosis; pulmonary hypertension; cryptorchidism (m); raised CPK (589IU/L); EMG myopathic; MRI muscle fatty infiltration/hypoplasia paraspinal, gluteus maximus, adductor magnus and sartorius muscles thigh; MRI brain normal 2 1 Johan den Dunnen
00274327 Fam2Pat3 PubMed: Di Gioia 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - New Zealand white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; ptosis; no palate high/cleft; gastro/jejunostomy; thin tubular neck; no pectoralis hypoplasia; no hypoglossia; no scoliosis; no pulmonary hypertension; MRI muscle isolated sartorius involvement 2 2 Johan den Dunnen
00274328 Fam2Pat4 PubMed: Di Gioia 2017 - M - New Zealand white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures; growth failure; feeding problems; no ptosis; no palate high/cleft; gastro/jejunostomy; no thin tubular neck; no pectoralis hypoplasia; hypoglossia; no scoliosis; no pulmonary hypertension; cryptorchidism (m) 2 1 Johan den Dunnen
00274329 Fam3Pat5 PubMed: Di Gioia 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures talipes; growth failure; feeding problems; ptosis; palate high/cleft; gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; no hypoglossia; no scoliosis; no pulmonary hypertension; raised CPK (360 IU/L); EMG myopathic; MRI muscle fatty infiltration/hypoplasia paraspinal, gluteus maximus, adductor magnus and sartorius muscles thigh; MRI brain normal 2 2 Johan den Dunnen
00274330 Fam3Pat6 PubMed: Di Gioia 2017 - F - United States white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; growth failure; feeding problems; no ptosis; palate high/cleft; gastro/jejunostomy; no thin tubular neck; no pectoralis hypoplasia; no hypoglossia; scoliosis; no pulmonary hypertension; raised CPK (282 IU/L); MRI brain normal 2 1 Johan den Dunnen
00274331 Fam4Pat7 PubMed: Di Gioia 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; congenital contractures 4/5th finger; growth failure; feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; hypoglossia; no scoliosis; no pulmonary hypertension; CPK normal; MRI brain normal 2 1 Johan den Dunnen
00274332 Fam5Pat8 PubMed: Di Gioia 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Brazil white, Indian, African - - - - ? facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; mild delayed motor milestone; generalized muscle hypoplasia; congenital contractures 4/5th finger; no growth failure; no feeding problems; ptosis; palate high/cleft; no gastro/jejunostomy; thin tubular neck; pectoralis hypoplasia; no hypoglossia; scoliosis; no pulmonary hypertension; raised CPK (543 IU/L); EMG myopathic 1 2 Johan den Dunnen
00274346 Fam4PatIII1 PubMed: Johansen 2016 3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Jordan - - - - - ? head control-1y, sit-3y, walk-4y; first words-6y; onset seizures-7m, myoclonic seizures; head circumference -1.2SD; hypotonia infancy; hypertonia; intellectual disability 1 2 Johan den Dunnen
00274347 Fam4PatIII2 PubMed: Johansen 2016 - F yes Jordan - - - - - ? head control-1y, sit-2y, walk-3y6m; first words-5y; no seizures; no hypotonia infancy; hypertonia; intellectual disability 1 1 Johan den Dunnen
00274348 Fam5PatIII1 PubMed: Johansen 2016 3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Iraq - - - - - ? head control-8m, sit-1y, walk-2y; first words-5y; onset seizures-2y, febrile seizures; head circumference -1.1SD; hypotonia infancy; hypertonia; intellectual disability 1 2 Johan den Dunnen
00274349 Fam5PatIII3 PubMed: Johansen 2016 - F yes Iraq - - - - - ? head control-9m, sit-1y, walk-2y; first words-5y; no seizures; head circumference -0.9SD; hypotonia infancy; hypertonia; intellectual disability; 1 1 Johan den Dunnen
00274350 Fam6PatIII3 PubMed: Johansen 2016 3-generation family, 3 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - ? head control-1y, sit-3y, walk-4y; first words-6y; onset seizures-1y, febrile seizures; head circumference -1.5SD; hypotonia infancy; hypertonia; intellectual disability 1 4 Johan den Dunnen
00274351 Fam6PatIII4 PubMed: Johansen 2016 - F yes Pakistan - - - - - ? head control-1y, sit-4y, walk-6y; no speech; no seizures; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability 1 1 Johan den Dunnen
00274352 Fam6PatIII7 PubMed: Johansen 2016 - F yes Pakistan - - - - - ? head control-1y, sit-4y, walk-5y; no speech; no seizures; head circumference -2SD; hypotonia infancy; hypertonia; intellectual disability 1 1 Johan den Dunnen
00314380 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314381 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
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