All individuals with variants in gene RAPSN

215 entries on 3 pages. Showing entries 1 - 100.
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00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00036644 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036645 - - - - - Germany - - - - - ? suspected CMS 1 1 Andreas Laner
00036646 - - - - - Germany - - - - - ? suspected CMS: since delivery hypotonia, myasthenia, during the day fatigability weakness, pulmonal infections, acute bronchitis 1 1 Andreas Laner
00036647 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036648 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036649 - - - - - Germany - - - - - ? hypotonia, developmental delay 1 1 Andreas Laner
00036650 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036651 - - - - - Germany - - - - - ? DNA from skin fibroblasts, fetus, termination of pregnancy, hydrops, cleft palate, contactures, pterygiae 1 1 Andreas Laner
00036652 - - - - - Germany - - - - - ? suspected CMS:severe hypotonia with periods of ventilation, ptosis,adequate mental development 1 1 Andreas Laner
00036653 - - - - - Germany - - - - - ? hypotonia, developmental delay 1 1 Andreas Laner
00036654 - - - - - Germany - - - - - ? hypotonia, developmental delay 1 1 Andreas Laner
00036655 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036656 - - - - - Germany - - - - - ? suspected CMS 1 1 Andreas Laner
00036657 - - - - - Germany - - - - - ? suspected ocular myasthenia; DD CMS, DD mitochondriopathy; MGZ #48843: sero-negative Myasthenie syndrome; MGZ #52958: 2 stillborn sons (6. SSM) with akinesia syndrome; parents are cousins (consanguine in family) 1 1 Andreas Laner
00036658 - - - - - Germany - - - - - ? CMS 1 1 Andreas Laner
00078891 - - family, 2 affecteds, 2 unaffecteds M yes Hong Kong - - - - - CMS unable to work due to general weakness 1 4 Chun Yiu Law
00078892 - - 2 unaffected relatives - - Hong Kong - - - - - Healthy/Control - 1 2 Chun Yiu Law
00154488 - - - F no Brazil - - - - - CMS - 1 1 Eduardo Estephan
00154489 - - - F no Brazil - 16y - - - CMS early-onset withe respiratory distress 2 1 Eduardo Estephan
00154490 - - - - - - - - - - - CMS - 1 1 Eduardo Estephan
00163650 - - Fetus, TOP 24th GW F no Germany - - - yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 5 1 Florian Erger
00213210 - - - - - (United States) - - - - - FADS arthrogryposis, hydrops 2 1 Tom Winder
00213211 - - - M - Canada French-Canadian - - - - CMS - 2 1 Tom Winder
00213212 11791205-Pat1a PubMed: Ohno 2002 3-generation family, sister of 11791205-Pat1b F - United States white >2y6m - - - CMS weak fetal movements; neonate-hypotonic,poor suck/cry, ptosis eyelids, ventaltory assistance (1d), first 5m tube feeding; 15m walked, fell frequently; diffusely weak, eyelid ptosis, fatigue easely, Gower's sign, high arched palate; walk-15m 2 3 Johan den Dunnen
00213213 11791205-Pat1b PubMed: Ohno 2002 3-generation family, brother of 11791205-Pat1a M - United States white - - - - CMS phenotype similar to affected sister 2 1 Johan den Dunnen
00213214 11791205-Pat2 PubMed: Ohno 2002 - M - United States white >2y - - - CMS weak fetal movements; neonate-hypotonic,poor suck/cry, ptosis eyelids;18m-walked, fell frequently; diffusely weak, eyelid ptosis, fatigue easely, Gower's sign, high arched palate; walk-18m 2 2 Johan den Dunnen
00213215 11791205-Pat3 PubMed: Ohno 2002 - F - United States - >27y - - - CMS soft cry, fluctuating eyelid ptosis; 18m-walked, no walk fast/run; several resperatory infections or other intercurrent illnesses, generalized weakness, inability to rise from squatting; walk-18m 2 2 Johan den Dunnen
00213216 11791205-Pat4 PubMed: Ohno 2002 - F - United States - >11y - - - CMS 0d-multiple joint contractures; neonate-weak suck/cry, poorly weight gain; 6m and later minor respiratory infections, increased weakness, respiratory distress requiring ventilation, mild eyelid ptosis, mild weakness cervical torso/limb muscles, excercise-induced fatigue 2 2 Johan den Dunnen
00213217 11791205-c PubMed: Ohno 2002 - - - United States - - - - - CMS - 1 19 Johan den Dunnen
00213218 11791205-c PubMed: Ohno 2002 - - - United States - - - - - CMS - 1 25 Johan den Dunnen
00213219 11791205-c PubMed: Ohno 2002 - - - United States - - - - - CMS - 1 4 Johan den Dunnen
00213220 11791205-c PubMed: Ohno 2002 - - - United States - - - - - CMS - 1 25 Johan den Dunnen
00213221 12651869-Pt1 PubMed: Ohno 2003 - F - United States - - - - - CMS mild to moderate fatigable weakness involving eyelid elevator, facial, limb girdle-muscles 10 2 Johan den Dunnen
00213222 12651869-Pt2 PubMed: Ohno 2003 - - - Turkey;Iraq Jewish - - - - CMS - 10 2 Johan den Dunnen
00213223 12651869-Pt3 PubMed: Ohno 2003 - - - Iran Jewish - - - - CMS - 10 2 Johan den Dunnen
00213224 12651869-Pt4 PubMed: Ohno 2003 - - - Iraq Jewish - - - - CMS - 10 2 Johan den Dunnen
00213225 12651869-Pt5 PubMed: Ohno 2003 - M - Iraq Jewish - - - - CMS - 10 2 Johan den Dunnen
00213226 12651869-Pt6 PubMed: Ohno 2003 - - - Iraq Jewish - - - - CMS - 10 3 Johan den Dunnen
00213227 12651869-Pt7 PubMed: Ohno 2003 - - - Iraq Jewish - - - - CMS - 10 4 Johan den Dunnen
00213228 12651869-Pt8 PubMed: Ohno 2003 - M - Yemen Jewish - - - - CMS - 10 3 Johan den Dunnen
00213229 12651869-c PubMed: Ohno 2003 - - - - - - - - - Healthy/Control - 4 46 Johan den Dunnen
00213230 12796535-Pat1 PubMed: Muller 2003 - F - Austria - - - - - CMS facial or bulbar weakness, generalized weakness, episodic crisis 6 1 Angela Abicht
00213231 12796535-Pat2 PubMed: Muller 2003 - F - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness 6 1 Angela Abicht
00213232 12796535-Pat3 PubMed: Muller 2003 - F - United Kingdom (Great Britain) - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis 6 1 Angela Abicht
00213233 12796535-Pat4 PubMed: Muller 2003 - M - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis with signs of respiratory insufficiency 6 1 Angela Abicht
00213234 12796535-Pat5 PubMed: Muller 2003 - F - Italy - - - - - CMS fluctuating ptosis, facial or bulbar weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency 6 1 Angela Abicht
00213235 12796535-Pat6 PubMed: Muller 2003 - F - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis with signs of respiratory insufficiency 6 1 Angela Abicht
00213236 12796535-Pat7 PubMed: Muller 2003 - M - Germany - - - - - CMS fluctuating ptosis, generalized weakness, episodic crisis with signs of respiratory insufficiency 6 1 Angela Abicht
00213237 12796535-Pat8b PubMed: Muller 2003 affected brother and sister M - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones 4 1 Angela Abicht
00213238 12796535-Pat8s PubMed: Muller 2003 affected brother and sister F - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones 4 1 Angela Abicht
00213239 12796535-Pat9 PubMed: Muller 2003 - M - Germany - - - - - CMS fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones 4 1 Angela Abicht
00213240 12796535-Pat10b1 PubMed: Muller 2003 affected brothers M - Germany - - - - - CMS fluctuating ptosis, episodic crisis with signs of respiratory weakness 4 1 Angela Abicht
00213241 12796535-Pat10b2 PubMed: Muller 2003 affected brothers M - Germany - - - - - CMS episodic crisis 4 1 Angela Abicht
00213242 12807980-Fam1b1 PubMed: Richard 2003 affected brothers M - France - - - - - CMS 51y-ptosis, neck fatigability 2 1 Johan den Dunnen
00213243 12807980-Fam1b2 PubMed: Richard 2003 affected brothers M - France - - - - - CMS 43y-ptosis, ophtalmoplegia, limb weakness 2 1 Johan den Dunnen
00213244 12807980-Pat3 PubMed: Richard 2003 - F - France - - - - - CMS 5m-facial diparesis, hypotonia, limb weakness 2 1 Johan den Dunnen
00213245 12807980-Pat4 PubMed: Richard 2003 - M - France - - - - - CMS 3y-ptosis, fatigability, no limb weakness, open mouth 2 1 Johan den Dunnen
00213246 12807980-Pat5 PubMed: Richard 2003 - F - France - - - - - CMS 7.5y-severe proximal weakness, no unaided walking 2 1 Johan den Dunnen
00213247 12929188-Pat1 PubMed: Maselli 2003 older sibling died at 3m (severe generalized weakness), parents/brother unaffected F - - - - - - - CMS childhood most wheelchair; 10y-2 corrective surgeries scolliosis; 18y-ptosis, moderate facial weakness (normal pupil and extraocular responses), moderate weakness proximal limbs (normal deep tendon refelexes) 2 2 Johan den Dunnen
00213248 12929188-Pat2 PubMed: Maselli 2003 older sister born with severe weakness and arthrogryposis (died at 7m), parents/younger brother unaffected F - - - - - - - CMS 19y-macular rash involving neck, trunk, left arm, leg (since birth), mild bilateral ptosis, mild facial weakness, mild generalized reduction muscle power 2 2 Johan den Dunnen
00213249 12929188-Pat3 PubMed: Maselli 2003 - F - - - - - - - CMS 14y-instability to sustain upward gaze; 10y-acute respiratory insufficiency (during flu-like illness) required intubation/mechanical ventilation 2 2 Johan den Dunnen
00213250 12929188-Pat4 PubMed: Maselli 2003 - F - - - - - - - CMS 29y-mild bilateral ptosis, paretic nystagmus, wekaness right lateral rectus muscle, mild proximal and distal weakness upper extremities 2 3 Johan den Dunnen
00213251 12929188-Pat5 PubMed: Maselli 2003 - M - - - - - - - CMS 5y-bilateral ptosis worsening, persistant upward gaze, mild generalized weakness increasing after exercise 2 2 Johan den Dunnen
00213252 12929188-Pat6 PubMed: Maselli 2003 - M - - - - - - - CMS 3y-mild intermittend ptosis 2 3 Johan den Dunnen
00213253 14504330-Pat1 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita wirst, ankles, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213254 14504330-Pat2 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita shoulders, ankles, dysmorphic, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213255 14504330-Pat3 PubMed: Burke 2003 - M - Canada - - - - - CMS arthrogryposis multiplex congenita ankles, episodic crisis and/or apnea, high arched palate 6 1 Johan den Dunnen
00213256 14504330-Pat4 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita fingers, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213257 14504330-Pat5 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita wrist, elbows, ankles, shoulders, hips, knees, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213258 14504330-Pat6 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita dysmorphic, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213259 14504330-Pat7 PubMed: Burke 2003 - M - Canada - - - - - CMS arthrogryposis multiplex congenita elbows, knees, ankles, dysmorphic, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213260 14504330-Pat8 PubMed: Burke 2003 - M - Canada - - - - - CMS arthrogryposis multiplex congenita wrists, hips, ankles, high arched palate, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213261 14504330-Pat9 PubMed: Burke 2003 - F - Canada - - - - - CMS arthrogryposis multiplex congenita ankles, high arched palate, episodic crisis and/or apnea 6 1 Johan den Dunnen
00213262 14504330-Pat10 PubMed: Burke 2003 - M - Canada - - - - - CMS arthrogryposis multiplex congenita hips, knees, ankles, episodic crisis and/or apnea 4 1 Johan den Dunnen
00213263 14504330-Pat11 PubMed: Burke 2003 - M - Canada - - - - - CMS arthrogryposis multiplex congenita hips, knees, ankles, episodic crisis and/or apnea 6 1 Johan den Dunnen
00213264 14504330-Pat12 PubMed: Burke 2003 - M - Canada - - - - - CMS episodic crisis and/or apnea 6 1 Johan den Dunnen
00213265 14504330-Pat13 PubMed: Burke 2003 - F - Canada - - - - - CMS episodic crisis and/or apnea 6 1 Johan den Dunnen
00213266 14504330-Pat14 PubMed: Burke 2003 - M - Canada - - - - - CMS late onset, proximal and ankle dorsiflexion weakness, mild ptosis 4 1 Johan den Dunnen
00213267 14504330-Pat15 PubMed: Burke 2003 - M - Canada - - - - - CMS late onset, generalized limb weakness including ankle dorsiflexion 6 1 Johan den Dunnen
00213268 14504330-Pat16 PubMed: Burke 2003 - M - Canada - - - - - CMS late onset, proximal and ankle dorsiflexion weakness, mild ptosis 6 1 Johan den Dunnen
00213269 14729848-Pat1 PubMed: Ohno 2004 - - - United States - - - - - CMS - 6 1 Johan den Dunnen
00213270 14729848-Pat2 PubMed: Ohno 2004 - - - United States - - - - - CMS - 6 1 Johan den Dunnen
00213271 14729848-Pat3 PubMed: Ohno 2004 - - - United States - - - - - CMS - 6 1 Johan den Dunnen
00213272 14729848-Pat4 PubMed: Ohno 2004 - - - United States - - - - - CMS - 10 1 Johan den Dunnen
00213273 14729848-Pat5 PubMed: Ohno 2004 - M - United States - - - - - CMS - 6 1 Johan den Dunnen
00213274 14729848-Pat6 PubMed: Ohno 2004 - - - United States - - - - - CMS - 10 1 Johan den Dunnen
00213275 14729848-Pat7 PubMed: Ohno 2004 - - - United States - - - - - CMS - 6 1 Johan den Dunnen
00213276 14729848-Pat8 PubMed: Ohno 2004 - M - United States - - - - - CMS - 6 1 Johan den Dunnen
00213277 14729848-Pat9 PubMed: Ohno 2004 - - - United States - - - - - CMS - 6 1 Johan den Dunnen
00213278 14729848-Pat10 PubMed: Ohno 2004 - M - United States - - - - - CMS - 6 1 Johan den Dunnen
00213279 15328566-Pat1 PubMed: Ioos 2004 - F - France - - - - - CMS 45d-severe respiratory failure with apnea, bradycardia, hypotonia, required intubation mechanical ventilation; 4m-tracheostomy, gavage feeding due to severe swallowing disturbances; 10m-gastrostomy; 17m-tracheostomy tube removed; 35m gastrostomy removed; 21y-fatigability on exertion difficulties in running, ptosis when tired 2 1 Johan den Dunnen
00213280 15328566-Pat2 PubMed: Ioos 2004 sister died (11m during sleep) M - France - - - - - CMS born with severe arthrogryposis knees/hips, bilateral ptosis, facial paresis, episodes of respiratory failure with apneas occur during febrile illness, no diagnosis made, no treatment; 6m-respiratory distress due (false passage feeding during febrile illness), swallowing disturbances, facial paresis with open mouth, bilateral ptosis; 5y-some masticatory difficulties with fatigability, slight bilateral ptosis, moderate facial paresis with open mouth, symptoms fluctuate and aggrevate during fever episodes, resulting in transitory increase of treatment 2 1 Johan den Dunnen
00213281 15328566-Pat3 PubMed: Ioos 2004 - F - France - - - - - CMS no family history; 7m-gastric tube feeding, jejunostomy, frequent respiratory failures (necessitated tracheostomyat 4m); 30m-treated for vagal hypertonia (severe respiratory failure with cardio respiratory arrest); never walked, axial hypotonia with weakness of cervical muscles and neede to hold her head with her hands; 8y-clear improvement with treatment, could stand up and take some steps alone, mechanical ventilation stopped; 9y-tracheostomy removed; wheelchair bound 7y 2 1 Johan den Dunnen
00213282 16931511-Pat1 PubMed: Muller 2006, OMIM:var0008 first of two children of a german father and czech mother, both of the unaffected parents carried one of the mutations heterozygously F - - - - - - - CMS 2d-2 generalized tonic clonic seizures with cyanosis, treated 5d with phenobarbital; 4m-generalized moderate hypotonia, feeding difficulties; 9y-minor contractions extremities, almost normal muscle force, fluctuating ptosis, intermittent double vision, no major restrictionsevery day live 2 1 Johan den Dunnen
00213283 16931511-Pat2 PubMed: Muller 2006, OMIM:var0009 - M no Serbia - - - - - CMS 10y-distinctive facial features (elongated face, high arched palate, potrusion of mandibula), mild scoliosis, moderate contractures, mild ptosis without opthalmoparesis, nasal voice, moderate exercise induced weakness predominantly of proximal muscles 2 1 Johan den Dunnen
00213284 16945936-Pat1 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - - - - CMS mild weakness neck/upper limbs, mild bulbar/ocular symptoms 2 1 Johan den Dunnen
00213285 16945936-Pat2 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - - - - CMS severe weakness 2 1 Johan den Dunnen
00213286 16945936-Pat3 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - - - - CMS mild limb weakness, significant bulbar difficulties on neostigmine, requires assisted ventilation at night for nocturnal hypoventilation 2 1 Johan den Dunnen
00213287 16945936-Pat4 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - - - - CMS mild weakness, moderate impairment activities daily living 2 1 Johan den Dunnen
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