All individuals with variants in gene FRMD5

8 entries on 1 page. Showing entries 1 - 8.
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Disease     
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Owner     
00418960 Pat1 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents M - China - - - - - NDD see paper; ..., motor delay; developmental delay; seizures; ataxia; no hypotonia; spasticity; strabismus; MRI brain normal; feeding difficulties 1 1 Johan den Dunnen
00418961 Pat2 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents M - China - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; seizures; ataxia; hypotonia; spasticity; nystagmus; MRI brain pachygyria in bilateral temporal lobes; feeding difficulties, severe constipation 1 1 Johan den Dunnen
00418962 Pat3 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - NDD see paper; ..., motor delay; developmental delay; borderline intellectual disability; seizures; ataxia; no hypotonia; no spasticity; opsoclonus; MRI brain normal; myoclonus and dystonia; difficulty with fine motor skills; dyslexia; migraines 1 1 Johan den Dunnen
00418963 Pat4 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; seizures; ataxia; hypotonia; spasticity; ocular vertical nystagmus/flutter; MRI brain normal 1 1 Johan den Dunnen
00418964 DECIPHER-269740 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; no seizures; ataxia; hypotonia; no spasticity; nystagmus, intermittent flutter with poor fixation, mild myopia, delayed visual maturation; MRI brain normal; learning disability, behavioral problems, dystonia, dyskinetic and spasm-like movements and postures 1 1 Johan den Dunnen
00418965 DECIPHER-303400 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; no seizures; ataxia; hypotonia; no spasticity; opsoclonus, hypermetropia, visually impaired; MRI brain normal; moderate learning disability, urinary incontinence, behavior and self-regulation concerns, poor sleep, anxiety 1 1 Johan den Dunnen
00418966 Pat7 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier mother M - United States - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; seizures; ataxia; nystagmus, opsoclonus; MRI brain cystic foci in the periventricular white matter; learning problems, fatigue, headaches, interrupted sleep 1 1 Johan den Dunnen
00418967 Pat8 PubMed: Lu 2022 2-generation family, 1 affected, unaffected non carrier mother M - United States - - - - - NDD see paper; ..., motor delay; developmental delay; intellectual disability; abnormal EEG; no ataxia; hypotonia; spasticity; intermittent esotropia; MRI brain delays in myelination; autism spectrum disorder;, renal anomalies 1 1 Johan den Dunnen
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