All individuals with variants in gene DHX9

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00435608 Pat1 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay; severe intellectual disability; microcephaly (-2.14); MRI brain abnormal; no neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections 1 1 Johan den Dunnen
00435609 Pat2 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay; borderline intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435610 Pat3 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD developmental delay; severe intellectual disability; microcephaly (-2.49); MRI brain abnormal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; increased reflexes; ataxia; dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435611 Pat4 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435612 Pat5 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay; no intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435613 Pat6 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay; severe intellectual disability; microcephaly (-3.16) ; MRI brain abnormal; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections 1 1 Johan den Dunnen
00435614 Pat7 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - NDD developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435615 Pat8 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435616 Pat9 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435617 Pat10 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no axonal neuropathy; no dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435618 Pat11 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay; no microcephaly; MRI brain normal; neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435619 Pat12 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Poland - - - - - NDD developmental delay; severe intellectual disability; microcephaly (-3.22) ; MRI brain abnormal; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435620 Pat13 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay; moderate intellectual disability; microcephaly (-2.3); MRI brain abnormal; no neuropsychiatric disorders; seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; short stature; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435621 Pat14 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - NDD developmental delay; microcephaly (-3.39); no neuropsychiatric disorders; seizures; no drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435622 Pat15 PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435623 Pat16 PubMed: Calame 2023 2-generation family, 1 affected M - - - - - - - CMT no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435624 Pat17 PubMed: Calame 2023 2-generation family, 1 affected M yes - - - - - - CMT no developmental delay; no intellectual disability; no microcephaly; no neuropsychiatric disorders; no seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; diminished reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections 1 1 Johan den Dunnen
00435625 patient PubMed: Iossifov 2014, PubMed: Calame 2023 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00435626 M42-1 PubMed: Calame 2023 family, 2 affected sibs - - United States - - - - - ? mitochondrial disease, encephalopathy, stroke-like episodes, drug-resistant epilepsy 1 1 Johan den Dunnen
00435627 BAB4646 PubMed: Calame 2023 - - - United States - - - - - NDD severe developmental delay/intellectual disability, primary immunodeficiency 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.