All individuals with variants in gene ITPR1

65 entries on 1 page. Showing entries 1 - 65.
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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) 1 1 Yu Sun
00050389 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? nonprogressive cerebellar ataxia, hypertelorism, abnormality of the cardiac septa, intellectual disability, motor delay, strabismus 1 1 Johan den Dunnen
00050462 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? muscular hypotonia, thoracic scoliosis, small feet, aplasia/hypoplasia of the cerebellum 1 1 Johan den Dunnen
00050665 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - ? aniridia, ataxia, hypoplasia of the fovea, generalized hypotonia 1 1 Johan den Dunnen
00072163 Fam1PatII1 PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Morocco >04y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), no abnormal optical coherence tomography (-HP:0030603), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), severe intellectual disability (HP:0010864), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079), ventricular dilatation (HP:0002119), hymeneal imperforation (HP:?) 1 1 Jamie Zeegers
00072165 Fam2PatII1 PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Brazil >16y - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), slurred speech (HP:0001350), general hypotonia (HP:0001290), no epileptic seizures (-HP:?), mild intellectual disability (HP:0001256), poor head control (HP:0002421), delay in motor development (HP:0001270), facial dysmorphy (HP:0001999) 1 1 Jamie Zeegers
00072166 Fam3PatII1 PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - France >07y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), areflexia of lower limbs (HP:0002522), no epileptic seizures (-HP:?), moderate intellectual disability (HP:0002342), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272) 2 1 Jamie Zeegers
00072168 Fam5PatII1 PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected non-carrier parents F yes - France >01y06m - - - GLSP bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), extrapyramidal sign (HP:0002071), no peripheral neuropathy (-HP:0009830), myoclonic seizures (HP:0002123) , poor head control (HP:0002421), no delay in motor development (-HP:0001270), cerebellar atrophy (HP:0001272), marked kyphosis (HP:0002808), left pectoral agenesis (HP:?) 1 1 Jamie Zeegers
00151389 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Aniridia (HP:0000526); Muscular hypotonia (HP:0001252); Postnatal growth retardation (HP:0008897) 1 1 IMGAG
00152537 - - - ? - (Germany) - - - - - ? HP:0001251 (Ataxia) 1 1 IMGAG
00174401 - - - M - (Germany) - - - - - ? Ataxia (HP:0001251); Polyneuropathy (HP:0001271); Gait ataxia (HP:0002066); Areflexia of upper limbs (HP:0012046) 1 1 IMGAG
00293405 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00293414 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 41 Mohammed Faruq
00293420 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00374609 S-2623 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374766 S-2972 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374767 S-5822 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374768 S-4134 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374769 S-2849 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00375524 180536 - - - - - Arabian - - - - SCA15 Dysarthria, Motor delay, Neurological speech impairment, Neurodevelopmental delay 1 1 Andreas Laner
00411351 - - - F - - - - - - - GSD4 - 1 1 Ponghatai Damrongphol
00419566 8029 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00419587 9032 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00433662 - - - - - - - - - - - SCA intellectual disability, facial abnormalities, gait abnormality 1 1 Marketa Wayhelova
00455833 Pat73 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00455860 Pat100 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00467834 UD1902P0001 PubMed: Zhao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00467988 family PubMed: Iwaki 2008 4-generation family, 15 affected (9F, 6M) F;M - Japan - - - - - SCA see paper; ..., cerebellar ataxia; some patients head tremor, mental dysfunction; MRI brain cerebellar atrophy, no brainstem involvement 1 15 Johan den Dunnen
00467989 FamBPed2216 PubMed: Hara 2008 - - - Japan - - - - - SCA - 1 1 Johan den Dunnen
00467990 FamAPed256 PubMed: Hara 2008 3-generation family, affected (3F, 4M) F;M - Japan - - - - - SCA - 1 7 Johan den Dunnen
00467991 FamA PubMed: Van De Leemput 2007 4-generation family, 8 affected (5F, 3M) F;M - Australia - - - - - SCA - 1 8 Johan den Dunnen
00467992 FamH33 PubMed: Van De Leemput 2007 3-generation family, 4 affected - - United Kingdom (Great Britain) - - - - - SCA cerebellar ataxia 1 4 Johan den Dunnen
00467993 FamH27 PubMed: Van De Leemput 2007 3-generation family, 6 affected - - United Kingdom (Great Britain) - - - - - SCA - 1 6 Johan den Dunnen
00467994 FamC PubMed: Huang 2012 3-generation family, 4 affected (3F, M) F;M no Canada - - - - - SCA see paper; ..., early gross motor delay, hypotonia, gait ataxia, mild dysarthria, dysmetria 1 4 Johan den Dunnen
00467995 FamA PubMed: Huang 2012 family - - Canada - - - - - SCA see paper; ..., early gross motor delay, hypotonia, gait ataxia, mild dysarthria, dysmetria 1 1 Johan den Dunnen
00467999 patient PubMed: Schnekenberg 2015 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - ataxia see paper; ..., 42w-birth, 3 previous miscarriages; ataxia, intellectual disability; no clinical regression; moderate intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00468000 Pat3 PubMed: Schnekenberg 2015 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ataxia see paper; ..., birth at term, weight 2730g; no previous miscarriages; ataxia, intellectual disability; no clinical regression; moderate intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00468002 Fam91 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468003 FamPatSVP PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, affected mother/daughter F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 2 Johan den Dunnen
00468004 FamPatWP PubMed: McEntagart 2016, Journal: McEntagart 2016 daughter F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468005 Fam261348 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468006 Fam263220 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468007 Fam2021 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468008 Fam2018 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468009 Fam5284 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468010 Fam5285 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468011 Fam272179 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468012 Fam291 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468013 Fam2374 PubMed: McEntagart 2016, Journal: McEntagart 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ... 1 1 Johan den Dunnen
00468014 Fam1388;Fam4PatII1 PubMed: McEntagart 2016, Journal: McEntagart 2016PubMed: Gerber 2016, Journal: Gerber 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - GLSP see paper; ..., bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), no postural tremor (-HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), no intellectual disability (HP:0001249), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), short 4th metatarsal (HP:0004689) 1 1 Johan den Dunnen
00468020 patient PubMed: Van Dijk 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - ? see paper; ..., prenatal increased nuchal translucency; 6m-poor head contro, delayed motor development; 16m-severe truncal titubation, limb ataxia, no sitting, symmetric brisk deep tendon reflexes, alternating strabismus; severe pontocerebellar hypoplasia 1 1 Johan den Dunnen
00468021 family PubMed: Casey 2017 3-generation family, affected mother/brother/sister F;M - Ireland - - - - - SCA see paper; ..., spinocerebellar ataxia, early motor delay, poor coordination, gait ataxia, dysarthria 1 3 Johan den Dunnen
00468022 Pat7;Pat1 PubMed: Ohba 2013, PubMed: Sasaki 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - SCA see paper; ..., slowly progressive cerebellar atrophy; 6m-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; no oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; mild intellectual disability, speech three-word sentences; 4m-head control; 1y6m-sit; 2y-stand with support; no unassisted walk; MRI brain atrophy (superior dominant), vermis anterior dominant, normal  cerebrum; no deterioration 1 1 Johan den Dunnen
00468023 Pat2 PubMed: Sasaki 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - SCA see paper; ..., slowly progressive cerebellar atrophy; 1d-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; mild intellectual disability, speech three-word sentences; 3m-head control; 2y-sit; 3y-stand with support; 6y-walk (unstable); MRI brain atrophy (superior dominant), vermis anterior dominant, brainstem atrophy pontine tegmentum, normal  cerebrum; no deterioration 1 1 Johan den Dunnen
00468024 Pat3 PubMed: Sasaki 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - SCA see paper; ..., slowly progressive cerebellar atrophy; 1d-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; moderate intellectual disability, speech two-word sentences; 3m-head control; 2y2m-sit; unable to stand with support; 12y-walks (unstable); MRI brain atrophy (diffuse cortical), vermis anterior dominant, brainstem atrophy pontine tegmentum, normal  cerebrum; no deterioration 1 1 Johan den Dunnen
00468025 Pat4 PubMed: Sasaki 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - SCA see paper; ..., slowly progressive cerebellar atrophy; 5m-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; mild intellectual disability, speech two-word sentences; 1y4m-head control; 4y2m-sit; 3y7m-stand with support; no walk; MRI brain atrophy (superior dominant), vermis anterior dominant, brainstem atrophy pontine tegmentum, normal  cerebrum; no deterioration 1 1 Johan den Dunnen
00468038 Fam1 PubMed: Barresi 2017 3-generation family, affected mother/2 sons F;M - Italy - - - - - SCA see paper; ..., 6m-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; no intellectual disability; 12m-head control; 2y-sit; 3y-stand; 5y-walk; MRI brain cerebellar and/or vermis atrophy, normal brainstem, normal cerebrum, no deterioration, cerebellar atrophy 1 3 Johan den Dunnen
00468039 Fam2 PubMed: Barresi 2017 2-generation family, affected mother/duaghter F;M - Italy - - - - - SCA see paper; ..., 1d-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; no intellectual disability; 1y6m-sit; 3y6m-stand; 6y-walk (with deambulator); MRI brain cerebellar and/or vermis atrophy, normal brainstem, normal cerebrum, no deterioration, cerebellar atrophy 1 2 Johan den Dunnen
00468040 Pat3 PubMed: Barresi 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - SCA see paper; ..., 1d-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; no oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; no intellectual disability; 5m-head control; 11m-sit; 1y9m-stand; 2y-walk; MRI brain cerebellar and/or vermis atrophy, normal brainstem, normal cerebrum, no deterioration, cerebellar atrophy 1 1 Johan den Dunnen
00468041 Pat4 PubMed: Barresi 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - SCA see paper; ..., 5m-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; no oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; no intellectual disability; 4y-walk; MRI brain cerebellar and/or vermis atrophy, normal brainstem, normal cerebrum, no deterioration, cerebellar atrophy 1 1 Johan den Dunnen
00468042 family PubMed: Shadrina 2016 4-generation family, 5 affected (5M) M - Russia - - - - - SCA see paper; ..., mild 1 1 Johan den Dunnen
00468995 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468996 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468997 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468998 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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