All individuals with variants in gene GLS

4 entries on 1 page. Showing entries 1 - 4.
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00387747 M272 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Lur - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00472632 Fam1PatII2 PubMed: Fazal 2023 2-generation famiy, 2 affected sisters F yes Turkey Kurdish - - - - ? see paper; ..., no developmental delay; 3y-gait ataxia; 10y-wheelchair used, 12y-wheelchair bound; saccadic slowing, oculomotor apraxia, saccadic pursuit before blindness; spastic paraplegia, hyperreflexia, extensor plantar response; no intellectual disability (IQ89); no epilepsy; blindness due to optic atrophy; short stature (147cm); dropped head syndrome; 5y-MRI brain atrophy cerebellar vermis; nerve conduction studies normal 2 2 Johan den Dunnen
00472633 Fam1PatII1 PubMed: Fazal 2023 sister F yes Turkey Kurdish - - - - ? see paper; ..., no developmental delay; 4y-gait ataxia; 10y-wheelchair used, 12y-wheelchair bound; saccadic slowing, oculomotor apraxia, saccadic pursuit before blindness; spastic paraplegia, hyperreflexia, extensor plantar response; mild intellectual disability (IQ74); no epilepsy; blindness due to optic atrophy, strabismus; short stature (151cm); dropped head syndrome; MRI brain progressive cerebellar atrophy, cerebral atrophy of mesencephalon/medulla oblongata/posterior callosal body; nerve conduction studies normal 2 1 Johan den Dunnen
00472634 Fam2PatII2 PubMed: Fazal 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Europe-N;native-American - - - - NDD see paper; ..., 4y-walk, 4y-gait ataxia; early childhood wheelchair used; saccadic pursuit, oculomotor apraxia; attention deficit hyperactivity disorder, verbal IQ79, performance IQ45; epilepsy, staring spells, atonic spells, tonic-clonic seizures on awakening; no blindness; no dysmorphic features; MRI brain atrophy of cerebellar vermis; nerve conduction studies normal, except low sural SNAP for age, EMG mild neurogenic findings 2 1 Johan den Dunnen
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