All individuals with variants in gene ZFYVE26

22 entries on 1 page. Showing entries 1 - 22.
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00154961 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00291096 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291097 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00291098 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291099 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 86 Mohammed Faruq
00291101 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00304440 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304441 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304442 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00318006 PKMR212 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Mild to moderate ID, spasticity, progressive muscular weakness and ID started at 13 years of age. 1 1 Johan den Dunnen
00374538 S-2656 PubMed: Ganapathy 2019 - - - India - - - - - ? Progressive spasticity of lower limbs 1 1 Johan den Dunnen
00374882 S-1668 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00443411 FamAPatIV2 PubMed: Saadi 2023 5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - ? no ambulation, intellectual disability, muscle atrophy, dysarthria 1 4 Johan den Dunnen
00443412 FamAPatIV3 PubMed: Saadi 2023 sister F yes Pakistan - - - - - ? ataxic gait, intellectual disability, muscle atrophy, dysarthria, hip dysplasia 1 1 Johan den Dunnen
00443413 FamAPatV1 PubMed: Saadi 2023 nephew F yes Pakistan - - - - - ? ataxic gait, intellectual disability, muscle atrophy 1 1 Johan den Dunnen
00473253 Fam113247Pat463 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia sporadic case, mild motor delay, movement impairment started at age t 13y , climbing and standing difficulty, spastic gait, seizure, learning impairement, mild intellectual disability, bilateral shortening Aschilles tendons (released by surgery ), mild brain atrophy and mild periventricular hyper signal reported in brain MRI, neurogenic pattern in favor of anterior horn disease reported in NCV, normal WBC count (normal neutrophil 43%). 1 1 Johan den Dunnen
00473333 Fam204650Pat582 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia psychomotor delay, spastic gait , pes cavus, bulbar dysfunction, lower muscle spasticity , cramp and mild weakness , foot drop , running difficulty, normal CPK and normal EMG. 1 1 Johan den Dunnen
00473340 Fam205253Pat594 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia spastic gait, foot drop, corpus callosum hypoplasia, lower limb spasticity, mild muscle weakness, increased DTR, mild cognitive deficit and chronic inactive anterior horn cell disorder reported in EMG/NCV 1 1 Johan den Dunnen
00473422 Fam209368Pat723 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA sporadic case, age 23y old, started 5y with distal muscle weakness, gait difficulty , distal spasticity in toes , tremor , anterior horn cell disease reported in EDX 1 1 Johan den Dunnen
00473729 Fam9605992Pat1169 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - ataxia Speech difficulty; Mental deterioration; Muscle weakness & wasting, legs>arms; Tremor in hands; Spastic quadriparesis; Inability to walk since 2y; Abnormal findings in CT angiography of thoracic aorta; EMG-NCV: chronic axonal length dependent sensorimotor polyneuropathy with ongoing denervation 1 1 Johan den Dunnen
00473777 Fam9615120Pat1236 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ataxia Muscle weakness, lower>>upper limbs; Hyperpigmentation, patch, back of neck & arms; Ataxia; Age of onset:20y/o; Frequent fallings; Dysarthria; HT:156; WT:73; EMG-NCV:suggestive of motor neuron dis 1 1 Johan den Dunnen
00473807 Fam9703763Pat1278 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Lower limb spasticity; Lower limb weakness; Mild pes cavus; Spastic gait; Muscle spasm; Brain MRI: suggestive of diffused axonal injury and mild atrophic changes in corpus callosum. 1 1 Johan den Dunnen
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