All individuals with variants in gene KARS

56 entries on 1 page. Showing entries 1 - 56.
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00263933 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00285110 Pat1098 PubMed: Lieber 2013 - M - United States - 03y - - - ? 3y-deceased; hypotonia, global developmental delay, strabismus, ophthalmoplegia, dystonia, elevated plasma alanine and CSF lactate; increased mtDNA levels in muscle and abnormal brainstem auditory-evoked potential 2 1 Global Variome, with Curator vacancy
00285111 - PubMed: McMillan 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285112 - - - - - - - - - - - deafness hearing loss (HL), non-syndromic 1 1 Global Variome, with Curator vacancy
00285113 - PubMed: McMillan 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285114 - PubMed: Basit 2011, PubMed: Szafranski 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285115 BABS663 PubMed: McLaughlin 2010 3-generation family, 3 affected (F, 2M) F;M - - - - - - - ? see paper; ..., normal MNCVs in all nerves tested, normal amplitudes of evoked nerve response (left median, left ulnar, right median, right ulnar, left peroneal, and left post-tibial nerves), distal motor latencies prolonged; phenotype consistent with hereditary neuropathy, with liability to pressure palsies 1 1 Global Variome, with Curator vacancy
00285118 - PubMed: Basit 2011, PubMed: Szafranski 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285120 BAB564 PubMed: McLaughlin 2010 - - - - - - - - - ? see paper; ..., intermediate Charcot-Marie-Tooth disease, developmental delay, self-abusive behavior, dysmorphic features, vestibular Schwannoma 2 1 Global Variome, with Curator vacancy
00309638 Fam1IV:1 PubMed: Lin 2021 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F yes Iran - - - - - NDD developmental delay; intellectual disability; hearing loss; regression; seizures; ataxia; no hypotonia; spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy; brain calcification 1 3 Barbara Vona
00309646 Fam2IV:3 PubMed: Lin 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - 04y07m - - - NDD developmental delay; intellectual disability; hearing loss; regression; seizures; no ataxia; no hypotonia; spasticity; no visual impairment; no speech; mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy; microcephaly 1 1 Barbara Vona
00309647 Fam3II:2 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - HL no developmental delay; no intellectual disability; hearing loss; no regression; no seizures; ataxia; no hypotonia; no spasticity; no speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy 1 1 Barbara Vona
00309648 Fam4V:3 PubMed: Lin 2021 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy 1 2 Barbara Vona
00309649 Fam5II:1 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - ? no developmental delay; no intellectual disability; no hearing loss; no regression; no seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy; arthrogryposis, myopathy, mitochondrial 1 1 Barbara Vona
00309650 Fam6IV:1 PubMed: Lin 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran Arab;Iran - - - - NDD developmental delay; no intellectual disability; hearing loss; no regression; no seizures; ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; 1 1 Barbara Vona
00309651 Fam7IV:1 PubMed: Lin 2021 4-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; no seizures; ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy 1 2 Barbara Vona
00309652 Fam8IV:1 PubMed: Lin 2021 4-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy 1 2 Barbara Vona
00309653 Pat4 PubMed: Sun 2019 - F - - - - - - - ? developmental delay, hypotonia/spasticity, mild intellectual disability, seizures, bilateral hand tremor and ataxia, mildly elevated lactate, elevated CSF total protein, and slurred speech; MRI brain bilateral deep white matter 1 1 Johan den Dunnen
00309654 Pat3 PubMed: Sun 2019 - M - - - - - - - ? failure to thrive, developmental delay, developmental regression, microcephaly, nystagmus, hypotonia, hypertonia/spasticity, hyperreflexia, febrile seizures, and dysphagia; MRI brain cerebellar nuclei calcifications; vision loss, abnormal renal function, abnormal liver ultrasound, progressive joint contractures 2 1 Johan den Dunnen
00309655 Pat2 PubMed: Sun 2019 - M - - - - - - - ? neurocognitive decline, spasticity, seizures, ataxia, and abnormal movements; MRI brain bilateral periventricular white matter; primary hypothyroidism 2 1 Johan den Dunnen
00309656 Pat1 PubMed: Sun 2019 - F - - - - - - - ? hypotonia/spasticity, mild intellectual disability, slurred speech, ataxia, abnormal movement; MRI brain bilateral frontal white matter 2 1 Johan den Dunnen
00309657 Fam4338 PubMed: Santos-Cortez 2013 5-generation family, 7 affected (5F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - HL see paper; ... 1 7 Johan den Dunnen
00309658 Fam4406 PubMed: Santos-Cortez 2013 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - HL see paper; ... 1 4 Johan den Dunnen
00309659 Fam4284 PubMed: Santos-Cortez 2013, {DB:DVD} 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - HL see paper; ... 1 2 Johan den Dunnen
00309660 PatA PubMed: Ardissone 2018, PubMed: Orcesi 2011 - - - Italy - 00y20m - - - ? see paper; ..., leukoencephalopathy, spinal cord calcifications, deafness, hypochromic microcytic anemia 1 1 Johan den Dunnen
00309661 PatB PubMed: Ardissone 2018 - M - Italy - - - - - ? see paper; ... 2 1 Johan den Dunnen
00309662 PatC PubMed: Ardissone 2018 - F - Italy - - - - - ? see paper; ... 2 1 Johan den Dunnen
00314015 Fam9II:1 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Canada Europe - - - - NDD developmental delay; no intellectual disability; hearing loss; no regression; seizures; ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy 2 1 Barbara Vona
00314016 Fam10II:4 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - 13y - - - NDD developmental delay; no intellectual disability; regression; seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy 2 1 Barbara Vona
00324436 Fam11V:1 PubMed: Lin 2021 5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD developmental delay; intellectual disability; hearing loss, onset from an early neonatal age (probably congenital), 3y-unilaterally cochlear implant; regression; no seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy 1 4 Barbara Vona
00324437 Fam12II:1 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - 09y - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy 1 1 Barbara Vona
00324438 Fam13II:2 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - HL no developmental delay; no intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; no speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; no leukodystrophy 1 1 Barbara Vona
00324454 Fam14II:2 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; ataxia; hypotonia; no spasticity; visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy 2 1 Barbara Vona
00324455 Fam15II:1 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - NDD developmental delay; hearing loss; regression; seizures; ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; no leukodystrophy 2 1 Barbara Vona
00324456 patient PubMed: Scheidecker 2019 2-generation family 1 affected, unaffected heterozygous carrier parents F - France - 33y - - - ? see paper; died at 33y, ..., severe neurological and neurosensory disease, optic neuropathy 2 1 Johan den Dunnen
00324462 P4 PubMed: Fuchs 2019 - M - - - 04y - - - ? see paper; ..., 4y-deceased 2 1 Johan den Dunnen
00336011 Pat3 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - F - - - - - - - LEPID birth-OFC -3 SDS, current OFC -5 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications; no heart involvement 2 1 Gerarda Cappuccio
00336012 Pat4 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -1.2 SDS, current OFC -3.2 SDS; no growth delay; developmental delay/intellectual disability; no movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications 2 1 Gerarda Cappuccio
00336014 Pat1 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -4.7 SDS, current OFC -11.4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; no oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) 2 1 Gerarda Cappuccio
00336015 Pat8 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - F - - - - - - - LEPID birth-OFC -3.3 SDS, current OFC -5.2 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; no seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; no cerebral tissue loss; brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) 2 1 Gerarda Cappuccio
00336017 Pat5 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - - - - - - - - - LEPID birth-OFC -4 SDS, current OFC -6 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) 1 1 Gerarda Cappuccio
00336018 Pat6 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -3.7 SDS, current OFC -5.5 SDS; no growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement 1 1 Gerarda Cappuccio
00336022 Pat7 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -1.7 SDS, current OFC -5.7 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; seizures; no oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; no white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) 1 1 Gerarda Cappuccio
00336023 Pat9 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID current OFC -1.4; growth delay; developmental delay/intellectual disability; movement disorder; seizures; hearing loss; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) 2 1 Gerarda Cappuccio
00336032 Pat2 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -2.3 SDS, current OFC -4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) 2 1 Gerarda Cappuccio
00374350 S-4543 PubMed: Ganapathy 2019 - - - India - - - - - ? Axonal neuropathy 1 1 Johan den Dunnen
00374770 S-3139 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00385126 Fam16II:1 PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD developmental delay; intellectual disability; hearing loss; regression; no seizures; no ataxia; hypotonia; spasticity; visual impairment; speech; mortality; no dysmorphic facial features; no behavioral abnormalities; no leukodystrophy 2 1 Johan den Dunnen
00385127 Fam4V:4 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy 1 1 Johan den Dunnen
00385128 Fam7IV:4 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy 1 1 Johan den Dunnen
00385129 Fam8IV:2 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy 1 1 Johan den Dunnen
00385130 Fam11V:2 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; visual impairment; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy 1 1 Johan den Dunnen
00385131 Fam11V:3 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy 1 1 Johan den Dunnen
00385132 Fam11V:4 PubMed: Lin 2021 - M no - - - - - - NDD developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; no hypotonia; spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy 1 1 Johan den Dunnen
00428668 Fam19 PubMed: Wonkam 2022 3-generation family, 2 affected (1M,1F), unaffected carrier mother F no Ghana Africa - - - - DFNB89 - 1 2 Yacouba Dia
00448425 - PubMed: McLaughlin 2010 - - - United States - - - - - Healthy/Control - 1 1 Johan den Dunnen
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