All individuals with variants in gene TMX2

22 entries on 1 page. Showing entries 1 - 22.
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00269828 Fam1Pat1 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - 14d - - - ID see paper; ..., 2w-deceased; primary microcephaly (-3 SD birth), no developmental milestones; generalized apnea, status epilepticus; polymicrogyria; unlayered polymicrogyria and complete cortical disorganization 2 1 Johan den Dunnen
00269829 Fam2Pat2 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Portugal - - - - - ID see paper; ..., microcephaly (-4.5 SD 7y), signs of cerebral palsy, no speech, nonambulant; generalized epilepsy, absence, spasms; polymicrogyria 1 1 Johan den Dunnen
00269830 Fam3Pat3 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Australia;United Kingdom (Great Britain) white - - - - ID see paper; ... primary microcephaly (-2.5 SD at birth; -6.7 SD 9y), signs of cerebral palsy, no speech, nonambulant; generalized epilepsy, seizures; polymicrogyria 2 1 Johan den Dunnen
00269831 Fam4Pat4 PubMed: Vandervore 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - Puerto Rico - - - - - ID see paper; ... borderline microcephaly (-2.5 SD 28y), signs of cerebral palsy, no speech, nonambulant; focal seizures; progressive brain atrophy 1 2 Johan den Dunnen
00269832 Fam4Pat5 PubMed: Vandervore 2019 - F - Puerto Rico - - - - - ID see paper; ..., microcephaly (-3 SD 25y), signs of cerebral palsy, no speech, nonambulant; myoclonic epilepsy, absence, generalized tonic clonic seizures; progressive brain atrophy 1 1 Johan den Dunnen
00269833 Fam5Pat6 PubMed: Vandervore 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no Spain - - - - - ID see paper; ..., microcephaly (-2 SD birth, -4 SD 13y), signs of cerebral palsy, no speech, nonambulant; no seizures; pachygyria 2 2 Johan den Dunnen
00269834 Fam5Pat7 PubMed: Vandervore 2019 - M no Spain - - - - - ID see paper; ..., microcephaly (-3.5 SD 11y), signs of cerebral palsy, no speech, nonambulant; generalized tonic clonic seizures; pachygyria 2 1 Johan den Dunnen
00269835 Fam6Pat8 PubMed: Vandervore 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F yes - Arab 6y - - - ID see paper; ..., 6y-deceased; signs of cerebral palsy, no speech, nonambulant; generalized tonic clonic seizures; severe brain atrophy 1 2 Johan den Dunnen
00269836 Fam6Pat9 PubMed: Vandervore 2019 - F yes - Arab - - - - ID see paper; ..., microcephaly (0 SD birth, -5.5 SD 1y6m), signs of cerebral palsy, no speech, nonambulant; focal seizures; severe brain atrophy 1 1 Johan den Dunnen
00269837 Fam7Pat10 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - 7d - - - ID see paper; ..., 7d-deceased; microcephaly (-2.5 SD birth), no developmental milestones; apnea, diaphragmatic myoclonia, diffuse polymicrogyria, cobblestone-like malformation 2 1 Johan den Dunnen
00269838 Fam8Pat11 PubMed: Vandervore 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes Iraq - - - - - ID see paper; ..., microcephaly (-4.5 SD 10y); speech few words, nonambulant; generalized tonic epilepsy, myoclonic seizures 1 2 Johan den Dunnen
00269839 Fam8Pat12 PubMed: Vandervore 2019 - M yes Iraq - - - - - ID see paper; ..., microcephaly (-2.5 SD birth, -3.5 SD 5y); no speech, nonambulant; generalized tonic clonic seizures; polymicrogyria 1 1 Johan den Dunnen
00269840 Fam9Pat13 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - ID see paper; ..., microcephaly (-0.5 SD 4y10m); speech few words, walk with support; myoclonic status epilepticus; hemihypertrophy, frontal dysgyria 1 1 Johan den Dunnen
00269841 Fam10Pat14 PubMed: Vandervore 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Mexico;Spain - - - - - ID see paper; ..., microcephaly (-0.8 SD 11y6m); IQ 62, language disorder, hyperactive behavior, able to walk; no seizures; brain MRI normal 2 1 Johan den Dunnen
00427091 Fam1673PatIII1 PubMed: Ghosh 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - microlissencephaly birth full term, weight 2990g, OFC -2SD; weight 20kg, height 125cm, OFC -3SD; no gross motor delay, no fine motor delay, no speech delay, normal social development; neonatal seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
00427092 Fam2525PatIII2 PubMed: Ghosh 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Pakistan - 4y - - - microlissencephaly 4y-died (seizures); birth full term, weight 3300g, OFC -3SD; weight 17kg, height 112cm, OFC -3SD; gross motor delay, no fine motor delay, no speech delay, delayed social development; 2w-seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 2 Johan den Dunnen
00427093 Fam2525PatIII3 PubMed: Ghosh 2020 sister F yes Pakistan - - - - - microlissencephaly birth full term, weight 3200g, OFC -2SD; weight 10kg, height 90 cm, OFC -4SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 3w-seizures, generalized tonic-clonic seizures (1/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
00427094 Fam4984PatIII1 PubMed: Ghosh 2020 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Egypt - 5y - - - microlissencephaly 5y-died (pneumonia); birth full term, weight 3100g, OFC -1SD; weight 11kg, height 92cm, OFC -4SD; gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 1m-seizures, generalized tonic-clonic seizures (1/m), refractory, EEG multifocal spike/wave; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 3 Johan den Dunnen
00427095 Fam4984PatIII3 PubMed: Ghosh 2020 sister F yes Egypt - - - - - microlissencephaly birth-36w, weight 2800g,; weight 8kg, height 75cm, OFC -3SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 1m-seizures, generalized tonic-clonic seizures (1/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; EMG normal; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
00427096 Fam4984PatIII4 PubMed: Ghosh 2020 brother M yes Egypt - - - - - microlissencephaly birth-36w, weight 2900g, OFC -2SD; weight 7kg, height 65cm, OFC -4SD; no gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 6w-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; EMG normal; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
00427097 Fam3501PatIII6 PubMed: Ghosh 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Kuwait - - - - - microlissencephaly birth full term, weight 3100g, OFC -2SD; weight 22kg, height 110cm, OFC -4SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 2m-seizures, generalized tonic-clonic seizures (4/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 2 Johan den Dunnen
00427098 Fam3501PatIII7 PubMed: Ghosh 2020 sister F yes Kuwait - - - - - microlissencephaly birth full term, weight 3100g, OFC -2SD; weight 12kg, height 85cm, OFC -3SD; no gross motor delay, no fine motor delay, speech delayed, delayed social development; 2m-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism 1 1 Johan den Dunnen
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