All individuals with variants in gene RPIA

7 entries on 1 page. Showing entries 1 - 7.
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00226142 FamPatIII1 PubMed: Shukla 2019, Journal: Shukla 2019 3-generation family, unaffected heterozygous carrier parents M - India - - - - - RPIAD see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity 1 1 Anju Shukla
00308019 - PubMed: Van Der Knaap 1999, PubMed: Huck 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - ? see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; opic atrophy; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; EEG progressive background slowing and increasing epileptic activity; nerve conduction velocity polyneuropathy 2 1 Johan den Dunnen
00308020 patient PubMed: Naik 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - ? see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; no ataxia; spasticity; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; unilateral sensorineural hearing loss; EEG asymmetric background slowing, independent epileptiform activity; normal nerve conduction velocity 1 1 Johan den Dunnen
00308021 patient PubMed: Brooks 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - ? see paper; ..., developmental delay; speech delay; no epilepsy; no regression; dysarthria; nystagmus; ataxia; spasticity; normal deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; exotropia; cerebral white matter abnormalities; conductive hearing loss 2 1 Johan den Dunnen
00308036 Pat15 PubMed: Mahler 2019 2-generation family, several affected, unaffected heterozygous carrier parents - yes Germany - - - - - ? severe global developmental delay, tapetoretinal degeneration, coordination disorder 1 2 Johan den Dunnen
00333914 285 PubMed: Stone 2017 family, 3 affected F - (United States) - - - - - retinal disease clinical category IA1aiii 2 3 LOVD
00374826 S-4014 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
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