All individuals with variants in gene DHX30

32 entries on 1 page. Showing entries 1 - 32.
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00103885 28327206-PatBH5706_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay, intellectual disability, hypotonia, abnormal EEG, microcephaly, short stature, failure to thrive, hirsutism, mild cerebral volume loss 1 1 Johan den Dunnen
00103886 28327206-PatBG PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? intellectual disability, ataxic gait, dysmorphic features, microcephaly, short stature, scoliosis 1 1 Johan den Dunnen
00103887 28327206-PatGeneMatcher/HUGODIMS PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? seizures, microcephaly, short stature, strabismus, oculomotor apraxia, unsteady gait 1 1 Johan den Dunnen
00103888 28327206-PatGeneMatcher PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay, speech delay, sleep disturbance, microcephaly, truncal and orofacial hypotonia, strabismus on the right, hyperopia and bilateral hearing loss 1 1 Johan den Dunnen
00119078 - - - - - - - - 0 - - - - 1 1 Davor Lessel
00119079 - - - F - - - - 0 - - - - 1 1 Davor Lessel
00119080 - - - M - - - - 0 - - - - 1 1 Davor Lessel
00119081 - - - F - - - - 0 - - - - 1 1 Davor Lessel
00119082 - - - F - - - - 0 - - - - 1 1 Davor Lessel
00119083 - - - M - - - - 0 - - - - 1 1 Davor Lessel
00119084 - - - F - - - - 0 - - - - 1 1 Davor Lessel
00119085 - - - M - - - - 0 - - - - 1 1 Davor Lessel
00361735 - - - F ? - - - 0 - - NDD - 1 1 Davor Lessel
00361736 - - - M yes - - - - - - NDD - 1 1 Davor Lessel
00361737 - - - F - - - - - - - NDD - 1 1 Davor Lessel
00361738 - - - M - - - - - - - NDD - 1 1 Davor Lessel
00361739 - - - M - - - - - - - NDD - 1 1 Davor Lessel
00361740 - - - F - - - - - - - NDD - 1 1 Davor Lessel
00361741 - - - F - - - - - - - NDD - 1 1 Davor Lessel
00361742 - - - M - - - - - - - NDD - 1 1 Davor Lessel
00361750 PatA PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no France - - 0 - - NDD see paper; ..., intellectual disability; speech 20 words, 1y8m-first words; motor development delay; muscular hypotonia; 2y8m-walk; ataxic; autistic features; sleep disturbance; seizures; feeding difficulties; strabismus; joint hypermobility; cerebral MRI normal 1 1 Johan den Dunnen
00361751 PatB PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - 0 - - NDD see paper; ..., intellectual disability; speech 4 words, 4y-first words; motor development delay; muscular hypotonia; 6y-walk; ataxic; no autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI normal 1 1 Johan den Dunnen
00361752 PatC PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Turkey - - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; sleep disturbance; no seizures; no feeding difficulties; strabismus; joint hypermobility; cerebral MRI normal 1 1 Johan den Dunnen
00361753 PatD PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - Yemenite/Tripolitan Jewish - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; sleep disturbance; seizures; no feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, enlarged ventricles 1 1 Johan den Dunnen
00361754 PatE PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white, Europe - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 6y-walk; ataxic; only short distances independent; autistic features; no sleep disturbance; no seizures; feeding difficulties; no strabismus; joint hypermobility; cerebral MRI cortical atrophy, dilated ventricles 1 1 Johan den Dunnen
00361755 PatF PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - Hispanic - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; no sleep disturbance; no seizures; feeding difficulties; no strabismus; joint hypermobility; cerebral MRI mild cerebral atrophy 1 1 Johan den Dunnen
00361756 PatG PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 3y-walk; ataxic; autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination 1 1 Johan den Dunnen
00361757 PatH PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI cerebral atrophy, delayed myelination, dilated ventricles 1 1 Johan den Dunnen
00361758 PatI PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Honduras Europe-NotrhWest;Honduras - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; sleep disturbance; seizures; feeding difficulties; strabismus; joint hypermobility; cerebral MRI cerebral atrophy 1 1 Johan den Dunnen
00361759 PatJ PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Mexico - - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; no sleep disturbance; no seizures; feeding difficulties; strabismus; no joint hypermobility; cerebral MRI delayed myelination, dilated ventricles, corpus callosal abnormalities 1 1 Johan den Dunnen
00361760 PatK PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 5y-walk; ataxic; autistic features; no sleep disturbance; no seizures; no feeding difficulties; strabismus; joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, dilated ventricles 1 1 Johan den Dunnen
00361761 PatL PubMed: Lessel 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white, Europe - 0 - - NDD see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 8y-walk; ataxic; no autistic features; no sleep disturbance; no seizures; feeding difficulties; strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, dilated ventricles 1 1 Johan den Dunnen
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