All individuals with variants in gene SPG7

48 entries on 1 page. Showing entries 1 - 48.
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00047000 - - - - - - - - - - - SPG - 1 1 David Lynch
00054863 Pat1 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F no Netherlands - - - - - SPG7 pure ataxia only 2 1 Erik-Jan Kamsteeg
00054864 Pat2 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - SPG7 pure ataxia only 2 1 Erik-Jan Kamsteeg
00054865 Pat3 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - SPG7 HSP and ataxia, mild pyramidal signs lower limbs 2 1 Erik-Jan Kamsteeg
00073162 - ATX529 - M - France - - - - - SCAR - 1 1 Claire Guissart
00080118 22683032-PatSR596/07 PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium - M - - - - - - - ?, SRS;RSS prominent forehead (HP:0011220) 1 1 Zeynep Tümer
00152016 - - - - - - - - - - - SPG7 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00154960 - - - M - (Germany) - - - - - ? Limb ataxia (HP:0002070); Dysarthria (HP:0001260); Cerebellar atrophy (HP:0001272) 2 1 IMGAG
00208777 - - - F - Germany - - - - - - HP:0002313 (Spastic paraparesis); HP:0003808 (Abnormal muscle tone) 1 1 Andreas Laner
00248146 - - - F - - - - - - - - HP:0000759 (Abnormal peripheral nervous system morphology); HP:0007141 (Sensorimotor neuropathy) 2 1 Andreas Laner
00275583 - - - F - - - - - - - - Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00276023 - - - M - - - - - - - - Ataxia (HP:0001251) 1 1 Andreas Laner
00291595 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291596 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291597 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291598 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291599 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291600 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 44 Mohammed Faruq
00291601 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 42 Mohammed Faruq
00295573 - - - M - - - - - - - ? Abnormality of nervous system physiology (HP:0012638); Gait disturbance (HP:0001288) 1 1 Andreas Laner
00295597 - - - M - - - - - - - ? Spastic paraparesis (HP:0002313) 1 1 Andreas Laner
00295647 - - - F - - - - - - - ? Abnormality of the musculature (HP:0003011) 2 1 Andreas Laner
00295652 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00295656 - - - M - - - - - - - ? Spasticity (HP:0001257); Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 1 1 Andreas Laner
00295661 - - - M - - - - - - - ? Progressive spastic paraplegia (HP:0007020) 2 1 Andreas Laner
00295760 - - - F - - - - - - - ? Abnormality of nervous system physiology (HP:0012638); Gait disturbance (HP:0001288) 2 1 Andreas Laner
00295928 - - - M - - - - - - - ? Spastic hemiparesis (HP:0011099); Abnormal muscle tone (HP:0003808) 1 1 Andreas Laner
00296675 - - - F - - - - - - - ? Abnormality of brain morphology (HP:0012443); Ataxia (HP:0001251); Cerebellar atrophy (HP:0001272); Abnormality of the cerebellum (HP:0001317); Abnormality of eye movement (HP:0000496); Abnormality of saccadic eye movements (HP:0000570) 1 1 Andreas Laner
00299695 - - - M - - - - - - - ? Abnormality of muscle physiology (HP:0011804); Exercise-induced muscle cramps (HP:0003710) 1 1 Andreas Laner
00300248 - - - F - - - - - - - ? Spastic paraparesis (HP:0002313); Abnormality of the musculature (HP:0003011) 1 1 Andreas Laner
00300637 - - - M - Germany - - - - - ? Abnormality of nervous system physiology (HP:0012638); Spastic paraparesis (HP:0002313) 1 1 Andreas Laner
00302673 - - - M - (Germany) - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00303061 - - - M - - - - - - - ? Abnormality of nervous system morphology (HP:0012639); Cerebral palsy (HP:0100021); Ventriculomegaly (HP:0002119); Hydrocephalus (HP:0000238) 1 1 Andreas Laner
00304548 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304549 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307273 - - - F - (France) - - - - - OPA Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Retinal atrophy (HP:0001105) 1 1 Marc Ferre
00314854 patient;Pat27 PubMed: Covone 2016, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - ? see paper; ..., normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); normal age walking; normal speech; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000708); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); generalized hyperreflexia (HP:0007034); muscular hypotonia (HP:0001252) trunk, upper limbs; muscular hypertonia (HP:0001276) lower limbs; dysarthria (HP:0001260); peripheral neuropathy (HP:0009830); visual impairment (HP:0000505), strabismus, oculomotor apraxia; muscle atrophy, EMG: severe neurogenic pattern, joint retraction, ankle clonus, tongue fasciculations, spastic gait; no recurrent respiratory infections (-HP:0002205); abnormal corpus callosum morphology (HP:0001273), mild thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-invasive ventilation; 1 1 Johan den Dunnen
00374862 S-4359 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00374863 S-1058 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00379690 IR_GH_0084 - - M - Korea, South (Republic) - - - - - retinal disease HP:0032037, HP:0001123, HP:0000639, HP:0003745, HP:0000648 1 1 Jinu Han
00403898 - - - M yes Egypt - - - - - SPG7 cerebellar ataxia Spastic lower limbs, hyperreflexia, intact abdominal reflexes peripheral neuropathy pes cavus 1 1 Sherifa Ahmed Hamed
00408703 Pat29 PubMed: Thomas 2022 patient and affected brother - - France - - - - - ? - 1 1 Johan den Dunnen
00414070 AR18 Pennings et al. 2022, in progress - F - Netherlands - - - - - Healthy/Control bilateral pyramidal syndrome 1 1 Maartje Pennings
00414071 AR19 Pennings et al. 2022, in progress - M - Netherlands - - - - - Healthy/Control ataxia 1 1 Maartje Pennings
00455807 Pat47 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00455812 Pat52 PubMed: Salinas 2020 patient F - - - - - - - ? - 2 1 Johan den Dunnen
00462226 - - - M - - (not applicable) white - - - - ataxia HP:0002073, HP:0001260, HP:0002015, HP:0011443, HP:0012378 2 1 Marketa Wayhelova
00467312 Pat2 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents F - United States white - - - - ? see paper; ..., atrial septal defect, tracheomalacia, cleft palate, jaundice; developmental delay 1 1 Johan den Dunnen
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