All individuals with variants in gene KANSL1

57 entries on 1 page. Showing entries 1 - 57.
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00054912 - Journal: O'Rawe 2015 4-generation family, 6 affected, 5 unaffected heterozygous carrier females M - Albania - >16y 0 - - ID delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); sagging cheeks; long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); bulbous nasal tip (bulbous nose HP:0000414); strabismus (HP:0000486); myopia (HP:0000545); mild ventriculomegaly (HP:0002119); cerebellar atrophy; hypoplasia of the cerebellar vermis (HP:0001320); low deep tendon reflexes (reduced tendon reflexes) HP:0001315); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); diplegia (spastic diplegia HP:0001264); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); N/A; brain: periventricular white matter gliosis; not present -HP:0000463, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000369, -HP:0000411, -HP:0000470, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001257, -HP:0001290, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0009748, -HP:0011220, -HP:0011927; full term, weight 2850 (<10th) 1 6 Johan den Dunnen
00101205 26637982-Fam10PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 5 affected males, unaffected heterozygous carrier mothers M no Albania - - 0 - - ID see paper; ..., prominent supraorbital ridges, down-slanted palpebral fissures, sagging cheeks, long face, high palate, pointed chin 1 5 Johan den Dunnen
00117294 - PubMed: Zollino 2012 - F - Italy - - 0 - - KDVS Intrauterine growth retardation; hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; everted lower lip; large and/or prominent ears; broad chin; motor delay; mild intellectual disability; happy, friendly disposition; joint hyperextensibility; recurrent otitis 1 1 Giuseppe Marangi
00117295 - PubMed: Zollino 2012 - F - Italy - - 0 - - KDVS Hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; long face; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; large and/or prominent ears; broad chin; motor delay; moderate intellectual disability; happy, friendly disposition; dislocation of the hip; scoliosis; joint hyperextensibility; laryngospasm 1 1 Giuseppe Marangi
00117296 Pat3, Pat#34 PubMed: Koolen 2012, PubMed: Koolen 2016 - M - - white - 0 - - KDVS microdeletion syndrome, chromosome 17q21.31; intrauterine growth retardation; birth weight 2,500 g (5th centile); feeding difficulties, stridor, and failure to thrive in infancy; hypotonia; global developmental delay; independent walking and first words at two years of age; impaired fine motor skills; no seizures or stereotypical movements; short stature; fair hair; upslanting palpebral fissures; epicanthic folds; telecanthus; broad nasal base; smooth philtrum; thin vermillion border; small teeth; short webbed neck; blind ending sacral dimple; pes planus; prominence of the lateral ventricles secondary to lack of white matter volume, and some heterotopic nodules in the right frontal horn at brain MRI. 2 1 Giuseppe Marangi
00117297 Pat4, Pat#43 PubMed: Koolen 2012, PubMed: Koolen 2016 - M - - - - 0 - - KDVS bilateral cleft lip and palate; micrognathia; ventricular septal defect (VSD) spontaneously resolved; cryptorchidism; sacral dimple; neonatal hypotonia, inspiratory stridor and feeding difficulties; developmental delay, with independent walking at 26 months, and first words at 18 months; expressive language disorder; moderate cognitive impairment (IQ 35); friendly personality; normal brain MRI; frequent acute otitis media; mild hypermetropia; strabismus divergens; long face; micrognathia; hypertelorism; strabismus; everted ears; short upslanting palpebral fissures; high nasal bridge; broad pear-shaped nose; long philtrum; open mouth appearance; unilateral simian crease; scoliosis; pes planus; mild hypotonia; gait instability 1 1 Giuseppe Marangi
00117298 - PubMed: Koolen 2012 - M - - - - 0 - - KDVS microdeletion syndrome, chromosome 17q21.31 1 1 Johan den Dunnen
00117299 - PubMed: Koolen 2012 - F - - - - 0 - - KDVS microdeletion syndrome, chromosome 17q21.31 1 1 Johan den Dunnen
00117300 - PubMed: Koolen 2012 mother of patient (22544363-Ind3), unaffected F - - white - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117301 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117302 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117303 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117304 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117305 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117306 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117307 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117308 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117309 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117310 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117311 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117312 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117313 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117314 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117315 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117316 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117317 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117318 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117319 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117320 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117321 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117322 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117323 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117324 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117325 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117326 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117327 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117328 - PubMed: Koolen 2012 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00117329 Pat#35 PubMed: Koolen 2016 - M no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117330 Pat#36 PubMed: Koolen 2016 - M no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117331 Pat#37 PubMed: Koolen 2016 - F no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117332 Pat#38 PubMed: Koolen 2016 - F no Australia - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Amor
00117333 Pat#39 PubMed: Koolen 2016 - F no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117334 Pat#40 PubMed: Koolen 2016 - F no Australia - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117335 Pat#41 PubMed: Koolen 2016 - F no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117336 Pat#42 PubMed: Koolen 2016 - M no Australia - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Amor
00117337 Pat#44 PubMed: Koolen 2016 - M no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00117338 Pat#45 PubMed: Koolen 2016 - F no - - - 0 - - KDVS Koolen-de Vries syndrome see paper … 1 1 David Koolen
00291766 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00291767 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00296560 - - - F - - - - 0 - - ? Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Microcephaly (HP:0000252); Inability to walk (HP:0002540); Difficulty standing (HP:0003698); Poor fine motor coordination (HP:0007010) 1 1 Andreas Laner
00306301 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Short stature (HP:0004322); Feeding difficulties (HP:0011968); Seizure (HP:0001250); Gray matter heterotopia (HP:0002282) 1 1 IMGAG
00307376 kdvs_119 - - M - Netherlands - - - - - KDVS - 1 1 Alexander Dingemans
00307400 patient PubMed: Keen 2017, Journal: Keen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Irish;English/Irish;German - 0 - - KDVS see paper; ... 1 1 Alexander Dingemans
00307401 Pat1 PubMed: Dingemans 2021, Journal: Dingemans 2021 - F - - - - 0 - - KDVS Caesarian section; hypotonia; poor sucking; epilepsy; TIA; developmental delay; facial hypotonia; broad nasal tip; prominent nasal bridge; microdontia; clinodactyly of the fifth finger on both hands; hypotonia of the lower limbs; hypermobility and endorotation of her feet. 1 1 Alexander Dingemans
00307402 Pat2 PubMed: Dingemans 2021, Journal: Dingemans 2021 - M yes - - - 0 - - KDVS caesarian section; hypotonia; hypoxia; bradycardia; epilepsy; developmental delay; patent ductus arteriousus; scapula alata; pes planus; protruding ears; thin upper lip; upslanted palpebral fissures ; low hanging columella nasi; hypoplastic alae nasi and a wide mouth; cerebellar hypoplasia; friendly nature; cryptorchidism 1 1 Alexander Dingemans
00307403 Pat3 PubMed: Dingemans 2021, Journal: Dingemans 2021 - M - - - - 0 - - KDVS plagiocephaly; developmental delay; hypotonia; torticollis; constipation; epilepsy; happy disposition 1 1 Alexander Dingemans
00380792 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - KDVS DD; ID; muscular hypotonia; ptosis; short stature; hyperlaxity (Multiple systems) 1 1 LOVD
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