All individuals with variants in gene NARS

34 entries on 1 page. Showing entries 1 - 34.
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00050538 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure 1 1 Johan den Dunnen
00303557 Fam1Pat1 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 18m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; upslanting palpebral fissures, pes-cavus; tone normal; power reduced; ataxic gait; reflexes reduced 1 1 Stephanie Efthymiou
00303558 Fam7Pat7 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - epilepsy see paper; ..., no microcephaly; global developmental delay; 12m-sit; 2y3m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; large ears, long slender fingers; tone reduced; reflexes increased 1 1 Stephanie Efthymiou
00303559 Fam8Pat8 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents M no United States Germany-Ireland;England-native American;Russia-Poland - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 8m-sit; 2y11m-walk; language severely delayed; severe intellectual disability; myoclonic/partial seizures; ataxia; imaging no anomalies detected; broad forehead; tone increased; normal power; ataxic gait; reflexes increased; stereotypies 1 1 Stephanie Efthymiou
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 1 1 Stephanie Efthymiou
00303561 Fam16Pat24 PubMed: Manole 2020 2-generation family, affected sister/brother, unaffected heterozygous parents M no Kosovo - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; profound intellectual disability; myoclonic/generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone increased; power reduced; reflexes reduced 1 2 Stephanie Efthymiou
00303562 Fam17Pat26 PubMed: Manole 2020 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents F yes Libya - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; 1 3 Stephanie Efthymiou
00303563 Fam18Pat27 PubMed: Manole 2020 2-generation family, affected sisters, unaffected heterozygous parents F no Germany - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced 2 2 Stephanie Efthymiou
00303564 Fam19Pat29 PubMed: Manole 2020 3-generation family, affected brother/sister, unaffected heterozygous parents M no Turkey - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; thickening of gyri; no dysmorphic features 2 2 Stephanie Efthymiou
00303565 Fam20Pat31 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents F no Canada - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 6y10m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; thin corpus callosum, decreased white matter; hypotelorism; tone reduced; normal power; sensation normal; ataxic gait; reflexes normal; hip dysplasia 2 1 Stephanie Efthymiou
00303566 Fam21Pat32 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents M no United States - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 10m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; arachnoid cyst; no dysmorphic features; tone increased; normal power; sensation normal; ataxic gait; reflexes increased 2 1 Stephanie Efthymiou
00430722 - - - - yes Pakistan - - - - - epilepsy - 1 1 Sadaf Naz
00441675 Fam2Pat2 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - NDD see paper; ..., microcephaly; global developmental delay; 16m-sit; 2y2m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, upslanting palpebral fissures, thoracic kyphosis, wide spaced teeth; tone reduced; power reduced; sensation reduced; unilateral intention tremor; reflexes reduced; 1 1 Johan den Dunnen
00441676 Fam3Pat3 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - NDD see paper; ..., microcephaly; global developmental delay; 2y6m-walk; language severely delayed; severe intellectual disability; ataxia; imaging no anomalies detected; clinodactyly, retrognathia; tone increased; power reduced; dysarthria; reflexes increased; tremor/myoclonus 1 1 Johan den Dunnen
00441677 Fam4Pat4 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents M no United States white - - - - NDD see paper; ..., microcephaly; global developmental delay; 16m-sit; not waking; language severely delayed; profound intellectual disability; myoclonic/partial seizures; no peripheral neuropathy; ataxia; upslanting palpebral fissures, hypertelorism, arachnodactyly, pectus excavatum; tone increased; normal power; sensation normal; ataxic gait; reflexes increased; stereotypies 1 1 Johan den Dunnen
00441678 Fam5Pat5 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no United States Hispanic;Europe - - - - NDD see paper; ..., microcephaly; global developmental delay; 11m-sit; 3y-walk; language severely delayed; profound intellectual disability; generalised tonic clonic seizures / Partial; peripheral neuropathy; ataxia; upslanting palpebral fissures, wide spaced teeth, low set ears, fleshy helices; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced; 1 1 Johan den Dunnen
00441679 Fam6Pat6 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents M no United States Europe - - - - NDD see paper; ..., microcephaly; global developmental delay; 23y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; ataxia; mild atrophy, CSF space enlargement; low set ears, overfolded helices, syndactyly; tone increased; power reduced; sensation normal; ataxic gait; reflexes normal; 1 1 Johan den Dunnen
00441680 Fam9Pat9 PubMed: Manole 2020 2-generation family, affected brothers, unaffected heterozygous parents M yes India India-N - - - - NDD see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; contractures; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal; 1 2 Johan den Dunnen
00441681 Fam9Pat10 PubMed: Manole 2020 brother M yes India India-N - - - - NDD see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; moderate intellectual disability; no seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; scoliosis; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal; 1 1 Johan den Dunnen
00441682 Fam11Pat12 PubMed: Manole 2020 2-generation family, 4 affected (3F, M), unaffected heterozygous parents F yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 12m-sit; 1y8m-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; ataxia; clinodactyly; tone normal; normal power; sensation normal; ataxic gait; reflexes reduced; 1 4 Johan den Dunnen
00441683 Fam11Pat13 PubMed: Manole 2020 relative F yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 14m-sit; 2y8m-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; no ataxia; no dysmorphic features; tone normal; power reduced; sensation normal; normal gait; reflexes reduced; 1 1 Johan den Dunnen
00441684 Fam11Pat14 PubMed: Manole 2020 relative M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; clinodactyly, short limbs; tone normal; power reduced; sensation normal; normal gait; reflexes normal; 1 1 Johan den Dunnen
00441685 Fam11Pat15 PubMed: Manole 2020 relative F yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; profound intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; no dysmorphic features; tone normal; power reduced; sensation normal; normal gait; reflexes reduced; 1 1 Johan den Dunnen
00441686 Fam12Pat16 PubMed: Manole 2020 2-generation family, affected brothers, unaffected heterozygous parents M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 6y6m-walk; language severely delayed; severe intellectual disability; no seizures; no dysmorphic features; tone reduced; power reduced; 1 2 Johan den Dunnen
00441687 Fam12Pat17 PubMed: Manole 2020 brother M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; no seizures; no dysmorphic features; tone reduced; power reduced; 1 1 Johan den Dunnen
00441688 Fam13Pat18 PubMed: Manole 2020 2-generation family, affected brothers, unaffected heterozygous parents M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; power reduced; reflexes reduced; 1 2 Johan den Dunnen
00441689 Fam13Pat19 PubMed: Manole 2020 brother M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; power reduced; reflexes reduced; 1 1 Johan den Dunnen
00441690 Fam14Pat20 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes Pakistan - - - - - NDD see paper; ..., no microcephaly; global developmental delay; 7m-sit; 2y-walk; language severely delayed; moderate intellectual disability; no seizures; peripheral neuropathy; imaging no anomalies detected; no dysmorphic features; tone normal; power reduced; sensation reduced; reflexes reduced; 1 1 Johan den Dunnen
00441691 Fam15Pat21 PubMed: Manole 2020 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 4y-sit; 10y-walk; language severely delayed; severe intellectual disability; partial seizures; ataxia; dysplastic ears, syndactyly; tone normal; power reduced; ataxic gait; reflexes reduced; 1 4 Johan den Dunnen
00441692 Fam15Pat22 PubMed: Manole 2020 brother M yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 1y-sit; 2y-walk; language severely delayed; moderate intellectual disability; partial seizures; 1 1 Johan den Dunnen
00441693 Fam15Pat23 PubMed: Manole 2020 sister F yes Pakistan - - - - - NDD see paper; ..., microcephaly; global developmental delay; 2y-sit; 3y-walk; language severely delayed; moderate intellectual disability; generalised tonic clonic seizures; 1 1 Johan den Dunnen
00441694 Fam16Pat25 PubMed: Manole 2020 sister F no Kosovo - - - - - NDD see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; severe intellectual disability; generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone normal; power reduced; reflexes reduced; 1 1 Johan den Dunnen
00441695 Fam18Pat28 PubMed: Manole 2020 sister F no Germany - - - - - NDD see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; no seizures; peripheral neuropathy; ataxia; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait; 2 1 Johan den Dunnen
00441696 Fam19Pat30 PubMed: Manole 2020 sister F no Turkey - - - - - NDD see paper; ..., microcephaly; global developmental delay; 2y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; 2 1 Johan den Dunnen
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