All individuals with variants in gene SLC12A6

39 entries on 1 page. Showing entries 1 - 39.
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00037087 - - - - - Germany - - - - - ACCPN Andermann syndrome, arthrogryposis 1 1 Andreas Laner
00037088 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037089 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037090 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037091 - - - - - Germany - - - - - ACCPN Andermann syndrome 1 1 Andreas Laner
00037092 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037093 - - - - - Germany - - - - - ACCPN Andermann syndrome, arthrogryposis 1 1 Andreas Laner
00037094 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037095 - - - - - Germany - - - - - ACCPN Andermann syndrome, arthrogryposis 1 1 Andreas Laner
00037096 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050080 - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd degree) M yes Turkey - >10y06m - - - ACCPN see paper; Andermann syndrome; hypotonia, areflexia lower extremities, reduced deep tendon reflexes iupper extremities with normal tonus, delayed motor milestones; MRI complete agenesis corpus callosum, disseminated white matter hyperintensities 1 1 Johan den Dunnen
00050081 - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >05y - - - ACCPN see paper; Andermann syndrome; hypotonia, areflexia upper/lower extremities, delayed motor milestones mental retardation, afebrile seizures, dysmorphic features; MRI complete agenesis corpus callosum, batwing appearance frontal horns, enlargement cisterna magna 1 1 Johan den Dunnen
00050083 - PubMed: Howard 2002, Journal: Howard 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Canada French Canadian - - - - ACCPN - 2 1 Johan den Dunnen
00050084 - PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents - no Germany - - - - - ACCPN see paper; mild Andermann syndrome, ... 2 2 Johan den Dunnen
00050085 - PubMed: Howard 2002, Journal: Howard 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Italy - - - - - ACCPN - 1 2 Johan den Dunnen
00050086 - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - >03y06m - - - ACCPN see paper; feeding difficulties, hypotonia, areflexia upper/lower extremities, delayed motor milestones, mental retardation, seizures, mild dysmorphic feature complete; MRI agenesis of the corpus callosum, enlargement lateral ventricles, deformation gyrus cinguli 2 1 Johan den Dunnen
00050087 - PubMed: Howard 2002, Journal: Howard 2002 80 cases from several families, all parents unaffected heterozygous carriers - - Canada French Canadian - - - - ACCPN - 1 80 Johan den Dunnen
00050088 - PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Sudan - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 2 Johan den Dunnen
00050089 - PubMed: Howard 2002, Journal: Howard 2002, PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - ACCPN - 1 2 Johan den Dunnen
00050090 - PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents - - Algeria - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 2 Johan den Dunnen
00050091 - PubMed: Howard 2002, Journal: Howard 2002 110 controls - - Canada French Canadian - - - - Healthy/Control - 1 4 Johan den Dunnen
00050092 - PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - South Africa - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 2 Johan den Dunnen
00050093 - PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, affected brother/sister, unaffected heterozygous carrier parents - - South Africa - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 2 Johan den Dunnen
00050094 - PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Netherlands - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 1 Johan den Dunnen
00050095 - PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd degree cousin) M yes Turkey - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 1 Johan den Dunnen
00050096 - PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - ACCPN motor and sensory neuropathy and corpus callosum agenesis 1 1 Johan den Dunnen
00291182 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 86 Mohammed Faruq
00295150 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00295865 Pat1 PubMed: Park 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - CMT progressive disease; delayed motor development, walk-18m; motor neuropathy (predominant), sensory neuropathy; predominant demyelinating neuropathy with intermediate type, axonal neuropathy; no sensory loss; diminished biceps reflex, diminished patellar reflex, diminished achilles reflex; no spasticity; upper limb proximal muscle weakness shoulder and elbow extension, otherwise normal (5/5); upper limb distal muscle weakness handwriting problems, otherwise stable; lower limb proximal muscle weakness hip abduction, hip flexion; foot dorsiflexion (4-/5), di-fficulties standing on heels; no upper limb muscle atrophy proximal/no distal; lower limb muscle atrophy distal, not proximal; upper limb motor nerve distal motor latency prolonged median 5.5 ms, nerve conductance velocity reduced, median 33 m/s, compound muscle action potential reduced, median 1.2 mv ; upper limb sensory nerve reduced, median snap (3.5 mv), ncv (21 m/s); lower limb motor nerve distal motor latency prolonged, tibial 5.2 ms, nerve conductance velocity reduced, tibial 23 m/s, compound muscle action potential reduced, tibial 3.5 mv; lower limb sensory nerve no response; MRI brain normal, MRI spine normal; no seizures, EEG normal; no intellectual disability; no dysmorphism; achilles tendon retraction; recurrent mild haemolytic anaemia, no hypertrophic nerves in nervesonography 1 1 Johan den Dunnen
00295866 Pat2 PubMed: Park 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - CMT progressive disease; delayed motor development; motor neuropathy, sensory neuropathy; predominant demyelinating neuropathy, axonal neuropathy; absent vibration sense, reduced perception of touch; diminished biceps reflex, diminished patellar reflex, diminished achilles reflex; no spasticity; upper limb proximal muscle weakness; upper limb distal muscle weakness hand intrinsics; minimal lower limb distal muscle weakness; lower limb proximal muscle weakness; upper limb muscle atrophy distal, not proximal; lower limb muscle atrophy distal, not proximal; upper limb motor nerve distal motor latency prolonged, median 2.1 ms, ulnar 3.8–5.9 ms, nerve conductance velocity reduced, median 32–35 m/s, ulnar 25–27 m/s, compound muscle action potential reduced-normal, median 3.7–7.3 mv, ulnar: 0.8–1.4 mv; upper limb sensory nerve no response; lower limb motor nerve distal motor latency prolonged, tibial no response, peroneal 9.2–44 ms, nerve conductance velocity tibial no respeonse, peroneal normal 90 m/s, compound muscle action potential reduced, tibial no response, peroneal 0.2–2.3 mv; lower limb sensory nerve no response; MRI brain normal, MRI spine normal; no seizures, EEG sleep bursts of generalised spine and polyspike and wave discharges; no intellectual disability; no dysmorphism; scoliosis, hand and foot deformities 1 1 Johan den Dunnen
00295867 Pat3 PubMed: Park 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - CMT progressive disease; delayed motor development, walk->24m; motor neuropathy, sensory neuropathy; predominant axonal neuropathy, demyelinating neuropathy; periumbilical hypaesthesia; normal biceps reflex, brisk and extended reflex zones in patellar reflex and achilles reflex; spasticity; no upper limb proximal muscle weakness; upper limb distal muscle weakness hands, otherwise normal; no lower limb distal muscle weakness; diminished lower limb proximal muscle weakness; no upper limb muscle atrophy proximal/no distal; lower limb muscle atrophy distal, not proximal; upper limb motor nerve distal motor latency normal, nerve conductance velocity normal, compound muscle action potential normal; upper limb sensory nerve normal; lower limb motor nerve distal motor latency prolonged, tibial 3.9–5.5 ms, peroneal 4.6–5.4 ms, nerve conductance velocity reduced, tibial 33–40 m/s, peroneal 37–44 m/s, compound muscle action potential reduced, tibial 1–1.9 mv, peroneal 0.5–0.8 mv; lower limb sensory nerve no response; MRI brain normal non-specific minimal white matter lesions periventricular, stable over 2 years; no seizures, EEG normal; no intellectual disability; no dysmorphism; achilles tendon retraction, planovalgus foot; celiac disease, short stature, migraine, bladder and bowel incontinence 1 1 Johan den Dunnen
00295868 patient PubMed: Kahle 2016 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - CMT progressive disease; delayed motor development; motor neuropathy (predominant), sensory neuropathy; predominant axonal neuropathy, secondary demyelinating neuropathy; no sensory loss; absent achilles reflex; no spasticity; no upper limb proximal muscle weakness; upper limb distal muscle weakness wrist and finger extension; lower limb distal muscle weakness; severe lower limb proximal muscle weakness; upper limb muscle atrophy proximal/distal; lower limb muscle atrophy proximal/distal; upper limb motor nerve distal motor latency prolonged, median 4.8–5.5 ms, ulnar 4.3–6.3 mv, nerve conductance velocity reduced, median 14–31 m/s, ulnar nr-14 m/s, compound muscle action potential reduced, median 0.2 mv, ulnar 0.1 mv; upper limb sensory nerve reduced, median snap (9 mv), ncv (44 m/s); lower limb motor nerve distal motor latency prolonged, tibial 6.1 ms, peroneal no response, nerve conductance velocity no response tibial and peroneal, compound muscle action potential reduced, tibial 0.4 mv, peroneal no response; lower limb sensory nerve normal snap, reduced sural ncv: 27 m/s; MRI brain normal, MRI spine normal; no seizures, EEG normal; no intellectual disability; no dysmorphism; 9y-lost independ ambulation 1 1 Johan den Dunnen
00300100 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300101 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00304461 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00374493 S-722 PubMed: Ganapathy 2019 - - - India - - - - - ? Neuropathy, sensory ataxia, proximal muscle weakness, tremors, delayed speech and ID 1 1 Johan den Dunnen
00408095 155 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - retinal disease 11 year old female was born at term after an uncomplicated perinatal course with a normal birth weight. During early infancy she was noticed to have hypotonia, weakness, and developmental delay. During early childhood, she continued to have hypotonia and weakness and she developed ataxia evident by slurred speech and ataxic gait. She achieved independent walking at 5 years of age, but as her neurological manifestations progressed, she became wheelchair bound before the age of 10 years. She also had talipes equinovarus and pes cavus which required surgical correction at the age of 5 years, kyphoscoliosis needed surgical procedure at the age of 10 years, and neuropathy evident by nerve conduction studies showing polyneuropathy predominantly demyelinating. Her physical examination was significant for wasted muscles particularly small hand muscles, weakness, hypotonia, hyporeflexia, decreased sensation, head tremor, dysmetria, intension tremor, and distinctive facial features (prominent eyes and upslanting palpebral fissures). ECG, echocardiogram, brain MRI, spinal MRI, and eye exam were all normal. Her parents were cousins and she had an old sister who is similarly affected and three healthy brothers. 1 1 LOVD
00453029 Fam6 Journal: Paracha 2024 4-generation family, 2 affected brothers, heterozygous carrier parents/relatives M yes Pakistan - - - - - NDD early onset severe intellectual disability, hypotonia areflexia, mild dysmorphic facial features; dysarthric, strabismus, unable to stand/walk 1 2 Muhammad Umair
00464359 - - - - - - - - - - - ACCPN - 2 1 Min Peng
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