All individuals with variants in gene PLP1

88 entries on 1 page. Showing entries 1 - 88.
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00000034 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 7 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 10 1 Yu Sun
00117956 19377470-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00117957 19377471-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 61 Lucy Raymond
00117958 - PubMed: Taube 2014 2-generation family, 3 affected males, 3 unaffected heterozygous carrier females M no United States - - - - - PMD;HLD1 mild classical PMD 1 3 Grace Hobson
00117959 - PubMed: Taube 2014 4-generation family, 2 affecteds, 2 unaffected heterozygous female carriers M - Philippines - - - - - PMD;HLD1 mild classical PMD phenotype 1 2 Grace Hobson
00117960 - PubMed: Taube 2014 5-generation family, 7 affected males M no Czech Republic - - - - - PMD;HLD1 mild classical PMD 1 7 Grace Hobson
00180274 23347225-PatPM-43 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 - M - Spain white >20y - no no PMD;HLD1 - 1 1 Jesus Molano Mateos
00180300 01384324-Fam1 PubMed: Strautnieks 1992 3-generation family, 2 affecteds (2M), 2 healthy carrier females M no United Kingdom (Great Britain) - - - - - PMD;HLD1 brother (II2) and nephew (III1) died of PMD 1 1 Johan den Dunnen
00180301 01384324-Fam2 PubMed: Strautnieks 1992 2-generation family, affected brothers, healthy carrier mother M no United Kingdom (Great Britain) - - - - - PMD;HLD1 - 1 2 Johan den Dunnen
00180302 23347225-PatPM-4 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - 3y - - - PMD;HLD1 3y-deceased; severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180303 23347225-PatPM-25 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180304 23347225-PatPM-53 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180305 23347225-PatPM-57 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 non-carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180306 23347225-PatPM-67 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180307 23347225-PatPM-68 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180308 23347225-PatPM-101 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180309 23347225-PatPM-154 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180310 23347225-PatPM-28 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180311 23347225-PatPM-39 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 non-carrier mother M - Spain - - - - - PMD;HLD1 complicated spastic paraplegia 1 1 Jesus Molano Mateos
00180312 23347225-PatPM-71 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180313 23347225-PatPM-83 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Spain - 12y - - - PMD;HLD1 12y-deceased; severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180314 23347225-PatPM-103 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 PLP null syndrome 1 1 Jesus Molano Mateos
00180315 23347225-PatPM-106 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180316 23347225-PatPM-121 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Spain - - - - - PMD;HLD1 PLP null syndrome 1 1 Jesus Molano Mateos
00180317 23347225-PatPM-133 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180318 23347225-PatPM-159 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180319 23347225-PatPM-81 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Greece - 13y - - - PMD;HLD1 13y-deceased; complicated spastic paraplegia 1 1 Jesus Molano Mateos
00180320 23347225-PatPM-119 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Jesus Molano Mateos
00180321 15712223-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180322 15712224-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180323 15712225-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180324 15712226-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe connatal Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180325 15712227-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180326 15712228-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180327 15712229-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180328 15712230-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180329 15712231-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180330 15712232-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180331 15712233-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180332 15712234-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180333 15712235-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180334 15712236-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180335 15712237-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180336 15712238-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180337 15712239-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180338 15712240-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180339 15712241-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180340 15712242-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180341 15712243-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180342 15712244-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180343 15712245-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180345 15712223-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180346 15712224-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180347 15712225-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180348 15712226-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180349 15712227-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 severe Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180350 15712228-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180351 15712229-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180352 15712230-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180353 15712231-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant 1 1 Johan den Dunnen
00180354 15712232-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant 1 1 Johan den Dunnen
00180355 15712233-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant 1 1 Johan den Dunnen
00180356 15712234-Pat? PubMed: Hübner 2005 - M - Germany - - - - - PMD;HLD1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant 1 1 Johan den Dunnen
00180357 15712223-Pat? PubMed: Hübner 2005 2-generation family, 1 affected (M), healthy non-carrier mother M - Germany - - - - - PMD;HLD1 classic Pelizaeus-Merzbacher disease 1 1 Johan den Dunnen
00180358 15712223-Pat? PubMed: Hübner 2005 2-generation family, 2 affected brothers M no Germany - - - - - PMD;HLD1 severely handicapped, disease onset shortly after birth 1 2 Johan den Dunnen
00180359 07573159-PatIV PubMed: Pratt 1995 4-generation family, 2 affecteds (2M), 2 unaffected carrier females M - United States - - - - - PMD;HLD1 nystagmus from birth; 1m-respiratory difficulty, tracheomalacia, brain stem auditory evoked response showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; 13m-MRI scan was extremely abnormal with poor myelination white matter, EMG showed no involvement peripheral nervous system; 4y-not able to sit, speak, feed himself. 1 2 Johan den Dunnen
00180360 07573159-PatIII2 PubMed: Pratt 1995 uncle M - United States - 23y - - - PMD;HLD1 inspiratory stridor, failure to thrive, nystagmus, spasticity, joint contractures, scoliosis; 21y-head CT scan showed severe atrophy with demyelination; died at 23y autopsy showed marked cerebellar atrophy, microscopic brain sections showed absence of myelin with preservation of axons diffusely within the white matter: 1 1 Johan den Dunnen
00180362 19328639-Pat1 PubMed: Shimojima 2010 - M - Japan - >14y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; tremor; auditory brain response only I-III waves; MRI delayed myelination 1 1 Johan den Dunnen
00180363 19328639-Pat2 PubMed: Shimojima 2010 - M - Japan - >14y - - - PMD;HLD1 severity score 2; 7m-head control; 4y-sitting; 4y-walking; nystagmus; no muscular hypotonia; pyramidal signs; ataxia; dysarthria; disease deteriorating, now only sitting; auditory brain response only I-III waves; MRI incomplete myelination 1 1 Johan den Dunnen
00180364 19328639-Pat3 PubMed: Shimojima 2010 - M - Japan - >33y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; no nystagmus; muscular hypotonia; pyramidal signs 1 1 Johan den Dunnen
00180365 19328639-Pat4 PubMed: Shimojima 2010 - M - Japan - 4y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; seizures; choreoathetosis; auditory brain response only I wave; MRI hypomyelination 1 1 Johan den Dunnen
00180366 19328639-Pat5 PubMed: Shimojima 2010 - M - Japan - >2y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; pyramidal signs; auditory brain response only I wave; MRI hypomyelination 1 1 Johan den Dunnen
00180367 19328639-Pat6 PubMed: Shimojima 2010 - M - Japan - >2y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia (upper limbs); pyramidal signs (lower limbs); auditory brain response only I wave; MRI delayed myelination 1 1 Johan den Dunnen
00180368 19328639-Pat7 PubMed: Shimojima 2010 - M - Japan - >1y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; strider; auditory brain response only I-III waves; MRI delayed myelination 1 1 Johan den Dunnen
00180369 19328639-Pat8 PubMed: Shimojima 2010 - M - Japan - >4y - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; auditory brain response only I wave; MRI delayed myelination 1 1 Johan den Dunnen
00180370 19328639-Pat9 PubMed: Shimojima 2010 - M - Japan - >5m - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; microcephaly; auditory brain response only I wave; MRI delayed myelination 1 1 Johan den Dunnen
00180371 19328639-Pat10 PubMed: Shimojima 2010 - M - Japan - >1y5m - - - PMD;HLD1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; sensori-neural seizures; auditory brain response only I-II waves; MRI hypomyelination 1 1 Johan den Dunnen
00218412 - - - M - - - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00299455 - - - M - - - - - - - ? Muscular dystrophy (HP:0003560); Areflexia (HP:0001284); Muscular hypotonia (HP:0001252); Abnormality of eye movement (HP:0000496) 1 1 Andreas Laner
00303035 Pat80 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00374560 S-6624 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00426147 61BS9000 PubMed: Al-Kasbi 2022 patient, no other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00428003 A103 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00455796 Pat36 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00464416 321969 - - M no Germany - - - - - PMD;HLD1 Neurodevelopmental delay, Delayed gross motor development, Expressive language delay, Intention tremor, Hyperreflexia, Babinski sign, Brachycephaly, Plagiocephaly 1 1 Andreas Laner
00465841 Fam35 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Severe joint laxity, fractures, global developmental delay, seizure disorder, encephalopathy, severe hypotonia, asthma, subtle dysmorphism (tented upper lip, upturned nose), horizontal nystagmus, exaggerated lordosis 1 2 Johan den Dunnen
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