Disease #00285

Official abbreviation -
Name epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy
OMIM ID -
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene TBC1D24
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00004090 - - - - - - Arab-Israeli - 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - TBC1D24 TBC1D24 1 1 Philippe Campeau
00089108 - - - M no Germany Caucasian >12y 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - S100A1 SLC1A2 1 1 Saskia Wortmann-Hagemann
00154492 Pat1 PubMed: Belal 2018, Journal: Belal 2018 - M no Japan Japanese - 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., microcephaly, Delayed myelination, brain atrophy, spastic quadriplegis, dyskinesia RHOBTB2 RHOBTB2 1 1 Mitsuko Nakashima
00154493 Pat2 PubMed: Belal 2018, Journal: Belal 2018 - F no Japan Japanese - 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., microcephaly, brain atrophy, cortical blindness, spastic quadriplegia, athetoid movement RHOBTB2 RHOBTB2 1 1 Mitsuko Nakashima
00154494 Pat3 PubMed: Belal 2018, Journal: Belal 2018 - F no Japan Japanese - 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., dyskinesia; myoclonic seizure, tonic seizure, febrile status epilepticus, complex focal seizures evoked by visual pattern; RHOBTB2 RHOBTB2 1 1 Mitsuko Nakashima
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