All individuals with variants in gene SHMT2

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
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00316020 Fam1Pat1 PubMed: Garcia-Cazorla 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - NDD birth weight 3630 gr (0.7 SD), OFC 32.3 cm (-2.1 SD); 10y-OFC 51.5 cm (-2.1 SD); severe intellectual disability; microcephaly detected during pregnancy; hypotonia at birth; first words-2y, walk-3.5y.; anxiety; attention deficit hyperactivity disorder-like; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex; no ataxia, no dysmetria; distal neuroaxonal impairment; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 5y-hypertrophic cardiomyopathy; arched eyebrows, thin upper lip, long philtrum, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, ocular movements: slow saccades, drooling, orofacial dyspraxia 1 2 Johan den Dunnen
00316021 Fam1Pat2 PubMed: Garcia-Cazorla 2020 brother M yes - - - - - - NDD birth weight 3320 gr (0.02 SD), OFC 32 cm (-2.4 SD); 20y-OFC 54.5 cm (1.3 SD); severe intellectual disability; microcephaly at birth; hypertonia extremities; first words-28m, walks-3.5y.; anxiety; hand stereotypies, autistic traits, short attention span, agressive bursts; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex, scissors gait; truncal ataxia, spastic-dyspraxic gait, dysmetria; intention tremor, dystonicmovements; progressive axonal and sensory neuropathy; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 16y-hypertrophic cardiomyopathy with left moderate ventricular dysfunction, ejection fraction of 0.40; arched eyebrows, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, scoliosis, ocular movements: slow saccades, drooling, orofacial dyspraxia eeg bifrontal discharges without clinical seizures 1 1 Johan den Dunnen
00316022 Fam2Pat3 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD birth weight 2578 gr (-1.5 SD), OFC 28.5 cm (-3 SD); 19y-OFC 53.5 cm (-1.5 SD); mild-moderate intellectual disability; microcephaly detected during pregnancy; sits9m, crawl-17m, walks26m; anxiety; attention deficit hyperactivity disorder-like; hypertonia limbs, hyperreflexia limbs; dysmetria; intention tremor, hand stereotypies; MRI brain hypoplasia, dysmorphy corpus callosum, unilateral Perisylvian polymicrogyria; 3y-hypertrophic cardiomyopathy; short philtrum, small downturned mouth digitalized thumbs; subclavian vascular ring, cyclic vomiting, strabismus right eye, tonic upward eye movement, mild amblyopia 2 1 Johan den Dunnen
00316023 Fam3Pat4 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD birth weight 2840 gr (0.8 SD), OFC 31.5 cm (-2.3 SD); 12y-OFC 51 cm (-2.43 SD); moderate intellectual disability; microcephaly detected during pregnancy; holds head-4m, sit-8m, first words-14m, walk-24m; no anxiety; attention deficit hyperactivity disorder-like, dysfunctional adaptative behavior; hypertonia limbs, hyperreflexia limbs, spastic gait; spastic-dyspraxic gait, dysmetria, SARA scale 5; intention tremor, mild hypokinesia, bradykinesia; 9y-nerve conduction normal; MRI brain corpus callosum hypoplasia, unilateral Perisylvian polymicrogyria; 9y-severe hypertrophic cardiomyopathy; heart transplantation; arched eyebrows, thin upper lip,low-set thumbs, 2-3 toe syndactyly; expressive language disorder 2 1 Johan den Dunnen
00316024 Fam4Pat5 PubMed: Garcia-Cazorla 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD birth weight 2700 gr (-1.4 SD), OFC 31.5 cm (-2.9 SD);2y OFC 46cm (-3SD); severe intellectual disability; microcephaly detected during pregnancy; holds head-12m, no sitting, no speech; spastic tetraplegia; MRI brain thin corpus callosum, ventriculomegaly; atrial septum defects, ostium secondum; facial diplegia, retrognathia, bifid uvula, closed hands, adductus thumbs; mild scoliosis, hip dislocation, divergent strabismus 2 1 Johan den Dunnen
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