All individuals with variants in gene SLC9A6

54 entries on 1 page. Showing entries 1 - 54.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 5 1 Yu Sun
00016987 Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016988 Fam2 PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - Sweden - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (2.5th); open mouth, drooling; swallowing difficulty; ECG epileptiform activity, background frequency 1.5-3 Hz 1 2 Lucy Raymond
00016989 Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016990 Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00016991 Fam4 PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - South Africa - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX see paper; ..., profound developmental delay; no speech, no easily provoked laughter; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (3/4); swallowing difficulty (1/4); flexed arms; ECG epileptiform activity, background frequency 4-7 Hz; MRI brain cerebellar atrophy 1 2 Lucy Raymond
00016992 Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016995 - - - - - - - - - - - Healthy/Control - 5 1 Johan den Dunnen
00016996 - - - ? - - ? - - - - MRX;IDX - 1 1 Birgit Neitzel
00016997 - - - ? - - ? - - - - MRX;IDX - 1 1 Birgit Neitzel
00016998 - - - ? - - ? - - - - MRX;IDX - 1 1 Birgit Neitzel
00016999 - - - ? - - ? - - - - MRX;IDX - 1 1 Birgit Neitzel
00017000 - - - ? - - ? - - - - MRX;IDX - 1 1 Birgit Neitzel
00017001 Fam1 PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - - - - MRX;IDX see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements (2/3); squint; microcephaly; open mouth (2/3), drooling (2/3); swallowing difficulty (2/3); flexed arms; ECG epileptiform activity, background frequency 10-11 Hz; MRI brain cerebellar atrophy (1/3) 1 3 Johan den Dunnen
00017002 Fam3 PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - - - - MRX;IDX see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements; squint; microcephaly; open mouth, drooling; swallowing difficulty (1/3); flexed arms (1/3); ECG epileptiform activity, background frequency 4-7 Hz 1 3 Johan den Dunnen
00017022 Pat16 PubMed: Tzschach 2015 conceived after anonymous egg donation M - - ? - - - - MRX;IDX born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile) 1 1 Andreas Tzschach
00037149 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050585 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, intellectual disability, athetosis, generalized dystonia, constipation, delayed cns myelination 1 1 Johan den Dunnen
00164629 Fam1 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164630 Fam2 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164631 Fam3 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164632 Fam4 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164633 Fam5 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164634 Fam6 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164635 Fam7 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164636 Fam8 PubMed: Pescosolido 2014 2-generation family, 2 affected males, 2 unaffected carrier females M no United States - - - - - MRX;IDX see paper; … 1 4 Johan den Dunnen
00164637 Fam9 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - - - - MRX;IDX see paper; … 1 2 Johan den Dunnen
00164638 Fam10 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother/sister M no United States - - - - - MRX;IDX see paper; … 1 3 Johan den Dunnen
00164639 Fam11 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - - - - MRX;IDX see paper; … 1 3 Johan den Dunnen
00164640 Fam12 PubMed: Pescosolido 2014 3-generation family, affected male, unaffected carrier mother M no United States - - - - - MRX;IDX see paper; … 1 2 Johan den Dunnen
00164641 24123876-FamW08-0135 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 2 affected brothers, unaffected carrier mother M no Netherlands - - - - - MRX;IDX see paper; ... 1 3 Johan den Dunnen
00183126 25644381-FamM2 PubMed: Hu 2016 family, 5 affected, 10 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 Johan den Dunnen
00246684 00001 - - M no China - 01y - - - MRXSCH microcephaly, hearing impairment, neither walk nor talk 1 1 Xia Zhang
00294942 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296784 APN-43 PubMed: Redin 2014 analysis 106 patients M - France - - - - - ID mild intellectual disability 1 1 Johan den Dunnen
00307777 UK10K_FINDWGA5411275 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307778 UK10K_FINDWGA5410836 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00438720 HSJ0337 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - - DEE - 1 1 Johan den Dunnen
00464433 322428 - - M no Germany - - - - - MRXSCH Autistic behavior, Neurodevelopmental delay, Microcephaly, Absent speech, Dysphagia, Enlarged cisterna magna 1 1 Andreas Laner
00464448 FamPatIII8 PubMed: Garbern 2010 5-generation family, 8 affected (F, 7M) M yes United States - - - - - ID see paper; ...,mild intellectual disability, good language skills; autistic behaviour; no microcephaly (55.9cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose 1 8 Johan den Dunnen
00464449 FamPatIII9 PubMed: Garbern 2010 brother M yes United States - 49y - - - ID see paper; ..., 49y-deceased; profound intellectual disability; autistic behaviour; no microcephaly (54cm); no mutism; incontinence; no epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; no late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose 1 1 Johan den Dunnen
00464450 FamPatIII10 PubMed: Garbern 2010 brother M yes United States - 47y - - - ID see paper; ..., 47y-deceased; profound intellectual disability; autistic behaviour; microcephaly (53cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose 1 1 Johan den Dunnen
00464451 FamPatIII11 PubMed: Garbern 2010 brother M yes United States - - - - - ID see paper; ..., deceased; profound intellectual disability; autistic behaviour; microcephaly (53.3cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; maladaptive behaviour; hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose 1 1 Johan den Dunnen
00464452 FamPatIV4 PubMed: Garbern 2010 nephew M yes United States - - - - - ID see paper; ..., profound intellectual disability; autistic behaviour; no microcephaly (55.5cm); mutism; incontinence; epilepsy; no ophthalmoplegia; truncal ataxia; no non-ambulatory; no late ambulation; no adducted thumbs; dystonia; no maladaptive behaviour; no hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose 1 1 Johan den Dunnen
00464453 FamPatIV5 PubMed: Garbern 2010 nephew M yes United States - - - - - ID see paper; ..., profound intellectual disability; autistic behaviour; no microcephaly (54cm); no mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; no maladaptive behaviour; no hand-wringing; no hemiparesis; no Angelman-like syndrome; long, narrow face; no large ears; square, prognathic jaw; long, aquiline nose 1 1 Johan den Dunnen
00464454 FamPatI4 PubMed: Masurel-Paulet 2016 2-generation family, 2 affected (2M), 4 unaffected carrier females M no France - - - - - ID see paper; ..., mild intellectual disability (FSIQ=60); speech normal sentences, childhood severe speech delay; OFC 55 cm (10th); no ataxia, no motor regression; no seizures 1 2 Johan den Dunnen
00464455 FamPatII4 PubMed: Masurel-Paulet 2016 nephew M no France - - - - - ID see paper; ..., mild intellectual disability ; speech delay (lage equivalent 3y4m), short sentences, impaired articulation; no stereotypical behavior, restricted communication/creativity, good quality reciprocal social interactions, hindered by impaired oral communication, no autism spectrum disorders, no anxiety 1 1 Johan den Dunnen
00464456 Fam1 PubMed: Riess 2016 4-generation family, 3 affected (3M), unaffected carrier female M no Germany - - - - - ID see paper; ..., feeding difficulties, seizures, severe intellectual disability, secondary microcephaly, epilepsy, scoliosis 1 3 Johan den Dunnen
00464457 Fam2Pat PubMed: Riess 2016 - M - Germany - - - - - ID see paper; ..., 16m-seizures, strabismus; severely retarded psychomotor development; 7y-microcephaly (OFC 46 cm (<3rd)) 1 1 Johan den Dunnen
00464458 FamPatII3/II1/III3 PubMed: Nan 2022 3-generation family, 3 affected (3F) F no Japan - - - - - ID see paper; ..., learning problems; 48y-difficulty fine motor skills right hand, gait became slower; bradykinesia, rigidity, exaggerated deep tendon reflexes limbs, predominately right side; conjugate, bilateral limitation upgaze,downgaze eye movements 1 3 Johan den Dunnen
00464459 Pat1 PubMed: Yamamoto 2025 patient F - Japan - - - - - PD see paper; ..., mid 50's Parkinson 1 1 Johan den Dunnen
00464460 Pat2 PubMed: Yamamoto 2025 patient F - Japan - - - - - PD see paper; ..., early 50's Parkinson 1 1 Johan den Dunnen
00464461 Pat3 PubMed: Yamamoto 2025 patient F - Japan - - - - - PD see paper; ..., mid 40's Parkinson 1 1 Johan den Dunnen
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