All individuals with variants in gene C19orf12

11 entries on 1 page. Showing entries 1 - 11.
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00001214 - - Disease not provided by submitter. F yes Mali African - - - - - - 1 3 Guida Landoure
00150146 26539891-FamBAB4776 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? hereditary spastic paraplegia 1 1 Johan den Dunnen
00302806 MPAN-1 PubMed: Tschentscher 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents M yes Germany Turkey - - - - NBIA see paper; ..., 25y-progressive gait disturbance, dystonia, spasticity, dementia, hallucinations, MRI brain T2-signal hypointensity in globus pallidus and substantia nigra, progressive cerebral atrophy, EMG signs of proximal denervation 1 2 Johan den Dunnen
00302807 MPAN-2 PubMed: Tschentscher 2015 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F yes Germany Turkey - - - - NBIA see paper; ..., psychiatric problems, rigidity, dementia, 20y-gait disturbance, MRI brain T2-signal hypointensity in globus pallidus 1 2 Johan den Dunnen
00302808 MPAN-3 PubMed: Tschentscher 2015 - F no Germany - - - - - NBIA see paper; ..., 10y-bilateral spasticity, brain MRI abnormalities in globus pallidus, optic atrophy, psychiatric symptoms 2 1 Johan den Dunnen
00361534 11DG1548 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; Neurodegeneration, progressive spasticity 1 1 Johan den Dunnen
00374669 S-5618 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00455764 Pat4 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00473040 Fam9738Pat151 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia onset 15y with Ataxia & Dysarthria; Difficulty walking; Quadriplegia (Quadriparesis); Loss of ambulation 16y, Decreased muscle mass; Spasticity; Seizures; Dysphagia; Lower limbs stiffness; Mental regression & progressive dementia; Progressive neuropathy; Pes cavus, bilateral; Claw toes; Thoracolumbar spine MRI: mild thoracic cord atrophic changes; EMG-NCV: UMN lesion which involves lower limbs. 1 1 Johan den Dunnen
00473251 Fam112776Pat455 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, 2 affected sibs, family history F yes Iran - - - - - paraplegia two affected siblings, onset 11y , spastic gait , frequent falling, lower limb spasticity and weakness,pes cavus, dysarthria, shortening achill tendon (releasing in age 13y ) chronic neurogenic changes in lower limb with possible mild anterior horn cell disease reported in EMG/NCV ,brain MRI normal( mild asymmetric right ventricle dilation as a normal variation),normal report of MR spectroscopy , normal cervical and thoricic MRI. 1 1 Johan den Dunnen
00473700 Fam9516714Pat1129 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ALS Ataxia; Amnesia; Dysarthria; Difficulty chewing & swallowing; Urinary incontinence; Mental problem; Facial weakness; Muscle weakness, distal> proximal, severe; Generalized muscle wasting; Joints stiffness; Flexion deformity, elbow & knee; Claw hand & foot, fingers; Deformity of feet; Pes cavus. EMG-NCV findings are suggestive of anterior horn cell 1 1 Johan den Dunnen
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