Disease #00285 (epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy)

Official abbreviation -
Name epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 5
Associated with 1 gene TBC1D24
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-28 15:59:54 +01:00 (CET)
Date last edited 2019-02-14 14:51:22 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00004090 - - - - - - Arab-Israeli - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - TBC1D24 TBC1D24 1 1 Philippe Campeau
00089108 - - - M no Germany white >12y - - - 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 - - - - 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 - - - - 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 - - - - 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
00303560 Fam10Pat11 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes India India-N - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, syndactyly; tone normal; normal power; sensation normal; ataxic gait; reflexes normal NARS NARS 1 1 Stephanie Efthymiou
00311094 - - - M yes Pakistan - - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - SLITRK3 1 1 Stephanie Efthymiou
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