All individuals with variants in gene ARX

46 entries on 1 page. Showing entries 1 - 46.
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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) 2 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) 1 1 Yu Sun
00003174 - PubMed: Bruyere 1999 large multigeneration family, 8 affected males M no Canada - - - - - DEE1 mental retardation, epilepsy 1 8 Johan den Dunnen
00003175 - PubMed: Claes 1997 family, 2 affected males M no Belgium - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy 1 2 Johan den Dunnen
00003176 - PubMed: Stromme 1999 family, 7 affected males M no Norway - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy 1 7 Johan den Dunnen
00003177 - PubMed: Stromme 2002 family, 7 affected males M no Australia - - - - - MRX;IDX mental retardation 1 7 Johan den Dunnen
00003178 - PubMed: Stromme 2002 family, 4 affected males M no Australia - - - - - MRX;IDX mental retardation 1 4 Johan den Dunnen
00003179 - PubMed: Partington 1988 family, 11 affected males M no Australia - - - - - PRTS mental retardation, dystonic movement hands 1 11 Johan den Dunnen
00003180 - PubMed: Frints 2002 family, 2 affected males M no Belgium - - - - - PRTS mild to moderate MR, dystonic movements hands, dysarthria 1 2 Johan den Dunnen
00003181 - PubMed: Scheffer 2002 3-generation family, 6 affected males, 3 unaffected carrier females M no Australia - - - - - DEE1 mental retardation, myoclonic epilepsy, spasticity 1 6 Johan den Dunnen
00003182 - PubMed: Stromme 2002 family, 2 affected males M no Norway - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy 1 2 Johan den Dunnen
00003183 - Ogata 2000 family, 1 affected ? no Japan - - - - - LISX2;XLAG lissencephaly, ambiguous genitalia, agenesis corpus callosum 1 1 Johan den Dunnen
00003184 - LP97-107 family, 1 affected ? no Japan - - - - - LISX2;XLAG lissencephaly, ambiguous genitalia, agenesis corpus callosum 1 1 Johan den Dunnen
00003185 - LR00-023 family, affected boy, unaffected carrier mother rM no Japan - - - - - LISX2;XLAG lissencephaly, hypoplastic male, agenesis corpus callosum 1 2 Johan den Dunnen
00003186 - LR00-175 family, affected boy, unaffected carrier mother rM no Japan - - - - - LISX2;XLAG lissencephaly, hypoplastic male, agenesis corpus callosum 1 2 Johan den Dunnen
00003187 - LR00-185 family, 1 affected ? no Japan - - - - - LISX2;XLAG lissencephaly, ambiguous genitalia, agenesis corpus callosum 1 1 Johan den Dunnen
00003188 - LP94-058, Dobyns 1999 family, 1 affected rF no Japan - - - - - LISX2;XLAG lissencephaly, agenesis corpus callosum, female (46, XY) 1 1 Johan den Dunnen
00003189 - LR01-102 family, 1 affected - no Japan - - - - - LISX2;XLAG lissencephaly, agenesis corpus callosum 1 1 Johan den Dunnen
00003190 - Kondo unpublished family, affected brother XLAG-Pat9, unaffected carrier mother M no Japan - - - - - LISX2;XLAG lissencephaly, agenesis corpus callosum 1 3 Johan den Dunnen
00003191 - Kondo unpublished family, affected brother XLAG-Pat8, unaffected carrier mother M no Japan - - - - - LISX2;XLAG lissencephaly, agenesis corpus callosum 1 3 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034768 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00034769 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00034770 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00034771 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00034772 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00034773 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00080703 - - - - - Australia - - - - - ? - 1 1 Cheryl Shoubridge
00143752 19449031-PatCo1 PubMed: Oshima 2009 - M - United States - - - - - - - 1 1 Johan den Dunnen
00177002 72892 - - M no Afghanistan - - - - - EE HP:0008936 HP:0002273 HP:0000486 HP:0000617 HP:0010804 1 1 Anaïs Begemann
00180166 29286531-Pat18 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), infantile spasms (HP:0012469), generalized infantile muscular hypotonia (HP:0008947). 1 1 Johan den Dunnen
00183093 25644381-FamT23 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00229581 Fam2 - - M no New Zealand - - - Y - autism, EIG, ID Epilepsy, significant intellectual disability with non-verbal autism spectrum disorder (ASD), challenging behaviours. 1 6 Marie Shaw
00229582 Fam3 - - M no Australia - - - - - WEST Severe neonatal onset epileptic encephalopathy. 1 1 Marie Shaw
00265415 - - - F - - - - - - - - Global developmental delay (HP:0001263); Hypopigmentation of the skin (HP:0001010); Agenesis of corpus callosum (HP:0001274); Strabismus (HP:0000486); Red hair (HP:0002297); Focal seizures (HP:0007359) 1 1 Andreas Laner
00269934 - - - M - - - - - - - ? multiple focal cortical dysplasia brain (HP:0002539); seizures (HP:0001250); drug resistant epilepsy; no typical tuberosis sclerosis (no family history TSC) 1 1 Andreas Laner
00289430 - - - M - - - - - - - ? Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Failure to thrive (HP:0001508); Recurrent bronchopulmonary infections (HP:0006538); Epileptic encephalopathy (HP:0200134) 1 1 IMGAG
00295016 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00295332 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00296404 - - - F - - - - - - - ? Microcephaly (HP:0000252); Intellectual disability (HP:0001249); Seizures (HP:0001250); Global developmental delay (HP:0001263); Cerebellar atrophy (HP:0001272); Hypoplasia of the corpus callosum (HP:0002079); Abnormal morphology of the hippocampus (HP:0025100) 1 1 IMGAG
00374105 - PubMed: Lefebvre 2021 fetus F - France - - - - - ? 28w-fetus, ultrasound intrauterine growth retardation, ventriculomegaly, corpus callosum hypoplasia; autopsy intrauterine growth retardation, corpus callosum hypoplasia, ventriculomegaly, low-set ears, narrow mouth 1 1 Johan den Dunnen
00374204 S-3827 PubMed: Ganapathy 2019 - - - India - - - - - ? Seizures, static encephalopathy, global developmental delay, intellectual and cortical visual dysfunction, latent nystagmus and esotropia 1 1 Johan den Dunnen
00387802 M8700016 PubMed: Hu 2019 family, 5 affected individuals - - Iran Persia - - - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 5 Johan den Dunnen
00438301 Pat19 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0006872 cerebral hypoplasia 1 1 Johan den Dunnen
00438406 Pat125 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0000574 thick eyebrow; HP:0001263 global developmental delay; HP:0001265 hyporeflexia; HP:0008897 postnatal growth retardation; HP:0001641 abnormality of the pulmonary valve; HP:0001601 laryngomalacia; HP:0002090 pneumonia; HP:0002876 episodic tachypnea; HP:0012735 cough; HP:0004395 malnutrition 1 1 Johan den Dunnen
00441899 Pat7 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - Netherlands - - - - - NDD see paper; ..., OFC +1.5 SDS; height +1 SDS; no feeding difficulties; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; unsteady gait; autism spectrum disorder, anxiety, hyperactivity 1 1 Johan den Dunnen
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