All individuals with variants in gene ST3GAL5

6 entries on 1 page. Showing entries 1 - 6.
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00168052 - submitted - F no Italy white 13y 0 - - CDG includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy. HP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151 1 1 Marco Trinchera
00168053 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - 0 - - epilepsy see paper; ..., infantile-onset symptomatic epilepsy syndrome, developmental stagnation, blindness 1 9 Johan den Dunnen
00168063 24026681-FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - 0 - - SPDRS see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation 1 3 Johan den Dunnen
00168064 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - 0 - - ? see paper; ..., delayed speech, hand stereotypies with a loss of purposeful hand movements, choreoathetosis, no clinical seizures; microcephaly (1), other small head circumference (1) 2 2 Johan den Dunnen
00168065 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - 0 - - epilepsy see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness 1 2 Johan den Dunnen
00168066 26649472-Pats PubMed: Wang 2016 28 individuals (12 males and 16 females), unaffected heterozygous carrier parents/relatives F;M yes United States - - 0 - - SPDRS infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening 1 28 Johan den Dunnen
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