All individuals with variants in gene HECTD1

28 entries on 1 page. Showing entries 1 - 28.
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00462197 Pat1 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; normal muscle tone; autism spectrum disorder; MRI brain abnormal; systemic dysphagia; no tube feeding; no congenital heart disease 1 1 Johan den Dunnen
00462198 Pat2 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language delay; fine motor delay; no gross motor dealy; intellectual disability; no microcephaly; epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; hallucinations; aggressive behavior; MRI brain abnormal; systemic dysphagia; no tube feeding; no cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462199 Pat3 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; normal muscle tone; no ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462200 Pat4 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., language delay; fine motor delay; gross motor dealy; no microcephaly; no epilepsy; abnormal muscle tone; autism spectrum disorder; no anxiety; self-injurious behavior; no hallucinations; aggressive behavior; MRI brain abnormal; dysphagia; tube feeding; no congenital heart disease 1 1 Johan den Dunnen
00462201 Pat5 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language delay; fine motor delay; no gross motor dealy; intellectual disability; no microcephaly; no epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; dysphagia; no tube feeding; cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462202 Pat6 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; abnormal muscle tone; MRI brain normal; dysphagia; no tube feeding; no cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462203 Pat7 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language delay; fine motor delay; gross motor dealy; microcephaly; no epilepsy; abnormal muscle tone; MRI brain normal; dysphagia; tube feeding; cryptorchidism; congenital heart disease 1 1 Johan den Dunnen
00462204 Pat8 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no language delay; fine motor delay; no gross motor dealy; no microcephaly; epilepsy; abnormal muscle tone; ADD/ADHD; no autism spectrum disorder; anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no congenital heart disease 1 1 Johan den Dunnen
00462205 Pat9 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no microcephaly; no epilepsy; normal muscle tone; MRI brain abnormal; systemic dysphagia; tube feeding; no cryptorchidism; congenital heart disease; dysconjugate gaze, hypertelorism, long eyelashes, upturned ears with fleshy lobes and mid-lobe indentation, short upturned nose, wide philtrum with deep grooves 1 1 Johan den Dunnen
00462206 Pat10 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language delay; no microcephaly; ADD/ADHD; autism spectrum disorder; no cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462207 Pat11 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., language delay; no fine motor delay; no gross motor dealy; microcephaly; epilepsy; normal muscle tone; no ADD/ADHD; autism spectrum disorder; anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain abnormal; systemic dysphagia; no tube feeding; no congenital heart disease 1 1 Johan den Dunnen
00462208 Pat12 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., language delay; fine motor delay; gross motor dealy; intellectual disability; no microcephaly; no epilepsy; abnormal muscle tone; ADD/ADHD; no autism spectrum disorder; anxiety; self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; no tube feeding; no congenital heart disease 1 1 Johan den Dunnen
00462209 Pat13 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., language delay; fine motor delay; no gross motor dealy; no microcephaly; no epilepsy; abnormal muscle tone; ADD/ADHD; autism spectrum disorder; anxiety; no self-injurious behavior; hallucinations; no aggressive behavior; systemic dysphagia; no tube feeding; cryptorchidism; no congenital heart disease 1 1 Johan den Dunnen
00462210 Pat14 PubMed: Zerafati-Jahromi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD see paper; ..., language delay; fine motor delay; gross motor dealy; microcephaly; no epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; no tube feeding; no congenital heart disease 2 1 Johan den Dunnen
00462211 1-02563 PubMed: Homsy 2015 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462212 DDD13k.02131 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462213 DDD13k.04533 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462214 RUMC_Pat476 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462215 3456 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462216 SP0130244 PubMed: Zhou 2022 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462217 SP0123550 PubMed: Zhou 2022 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462218 27672 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462219 71821 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462220 13711.p1 PubMed: Iossifov 2014 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462221 RUMC_Pat872 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462222 5352 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462223 117451 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
00462224 53609 PubMed: Kaplanis 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ? - 1 1 Johan den Dunnen
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