Disease #05523 (HLD (leukodystrophy, hypomyelinating (HLD)))

Official abbreviation HLD
Name leukodystrophy, hypomyelinating (HLD)
OMIM ID -
Inheritance -
Individuals reported having this disease 111
Phenotype entries for this disease 111
Associated with 2 genes POLR3A, POLR3B
Associated tissues -
Disease features -
Remarks -


Individuals

111 entries on 2 pages. Showing entries 1 - 100.
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00207553 21855841-FamIPat1 PubMed: Bernard 2011 - M - Canada French Canadian - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 5y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 2 1 Johan den Dunnen
00207554 21855842-FamIIPat2 PubMed: Bernard 2011 family, 3 affcted (F, 2M) M yes Canada French Canadian - 0 - - HLD developmental delay; cognitive regression; seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 3 Johan den Dunnen
00207555 21855842-FamIIPat3 PubMed: Bernard 2011 - M yes Canada French Canadian - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207556 21855842-FamIIPat4 PubMed: Bernard 2011 - F yes Canada French Canadian 21y 0 - - HLD no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy POLR3A POLR3A 1 1 Johan den Dunnen
00207557 21855842-FamIIIPat5 PubMed: Bernard 2011 - M - Canada French Canadian - 0 - - HLD no developmental delay; cognitive regression; no seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 12y wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; no nerve biopsy POLR3A POLR3A 1 1 Johan den Dunnen
00207558 21855843-FamIVPat6 PubMed: Bernard 2011 - F - Canada French Canadian - 0 - - HLD no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207559 21855844-FamVPat7 PubMed: Bernard 2011 - F - United States white - 0 - - HLD no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy POLR3A POLR3A 2 1 Johan den Dunnen
00207560 21855844-FamVIPat8 PubMed: Bernard 2011 - F - United States African American - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 10y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; POLR3A POLR3A 2 1 Johan den Dunnen
00207561 21855844-FamVIIPat9 PubMed: Bernard 2011 - M - United States white 36y 0 - - HLD no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 30y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy POLR3A POLR3A 2 1 Johan den Dunnen
00207562 21855844-FamVIIIPat10 PubMed: Bernard 2011 - F - United States white - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy POLR3A POLR3A 2 1 Johan den Dunnen
00207563 21855844-FamIXPat11 PubMed: Bernard 2011 - F - France - - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; hypogonadotropic hypogonadism; POLR3A POLR3A 2 1 Johan den Dunnen
00207564 21855844-FamXPat12 PubMed: Chouery 2011, PubMed: Bernard 2011 6-generation family, 6 affected (3F, 3M) M yes Syria - 28y 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 23y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 6 Johan den Dunnen
00207565 21855845-FamXPat13 PubMed: Chouery 2011, PubMed: Bernard 2011 - F yes Syria - - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207566 21855846-FamXPat14 PubMed: Chouery 2011, PubMed: Bernard 2011 - F yes Syria - - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207567 21855847-FamXPat15 PubMed: Chouery 2011, PubMed: Bernard 2011 - F yes Syria - - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207568 21855848-FamXPat16 PubMed: Chouery 2011, PubMed: Bernard 2011 - M yes Syria - - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207569 21855849-FamXPat17 PubMed: Chouery 2011, PubMed: Bernard 2011 - M yes Syria - - 0 - - HLD no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; POLR3A POLR3A 1 1 Johan den Dunnen
00207570 21855850-FamXIPat18 PubMed: Bernard 2011 - F - - white, Europe - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy POLR3A POLR3A 2 1 Johan den Dunnen
00207571 21855850-FamXIIPat19 PubMed: Bernard 2011 - M - Guatemala - - 0 - - HLD developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 9y wheelchair bound; hypodontia POLR3A POLR3A 1 1 Johan den Dunnen
00326825 4H-15 PubMed: Daoud 2013 family, 2 affected - - - - - 0 - - HLD - POLR3A POLR3A 1 2 Johan den Dunnen
00326826 4H-37 PubMed: Wolf 2014 family, 2 affected - no - African-American - 0 - - HLD - POLR3B POLR3B 1 2 Johan den Dunnen
00326827 4H-58 PubMed: Wolf 2014 - - no Syria - - 0 - - HLD - POLR3B POLR3B 1 1 Johan den Dunnen
00326828 4H-25 PubMed: Daoud 2013 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326829 4H-19 PubMed: Daoud 2013 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326830 4H-16 PubMed: Daoud 2013 - - - - - - 0 - - HLD - POLR3A POLR3A 1 1 Johan den Dunnen
00326831 4H-42 PubMed: Wolf 2014 - - no - - - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326832 4H-18 PubMed: Daoud 2013 family, 2 affected - yes - Mediterranean - 0 - - HLD - POLR3A POLR3A 1 2 Johan den Dunnen
00326833 4H-41 PubMed: Wolf 2014 - - no - Mediterranean - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326834 4H-20 PubMed: Daoud 2013 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326835 4H-23 PubMed: Daoud 2013 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326836 4H-17 PubMed: Daoud 2013 - - yes - Mediterranean - 0 - - HLD - POLR3A POLR3A 1 1 Johan den Dunnen
00326837 4H-32 PubMed: Wolf 2014 - - no - Hispanic - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326838 4H-27 PubMed: Daoud 2013 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326839 4H-26 PubMed: Daoud 2013 - - no - Europe-North - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326840 4H-48 PubMed: Wolf 2005 - - no - Europe-Central - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326841 4H-29 PubMed: Daoud 2013 - - no - Europe-North - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326842 4H-28 PubMed: Daoud 2013 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326843 4H-30 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326844 4H-72 PubMed: Wolf 2014 - - no - Europe-North - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326845 4H-31 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326846 4H-33 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326847 4H-34 PubMed: Wolf 2014 - - no - Hispanic - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326848 4H-F39 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 1 1 Johan den Dunnen
00326849 4H-21 PubMed: Daoud 2013 - - no Malaysia white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326850 4H-101 PubMed: Wolf 2014 - - no - Europe-East - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326851 4H-24 PubMed: Daoud 2013 - - no - Europe-North - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326852 4H-38 PubMed: Wolf 2014 - - no - African-American - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326853 4H-40 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326854 4H-44 PubMed: Wolf 2014 family, 2 affected - yes - white - 0 - - HLD - POLR3B POLR3B 1 2 Johan den Dunnen
00326855 4H-66 PubMed: Wolf 2014 - - no - Mediterranean - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326856 4H-43 PubMed: Wolf 2014 - - no - - - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326857 4H-22 PubMed: Daoud 2013 - - no - Hispanic - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326858 4H-45 PubMed: Wolf 2014 - - yes - white - 0 - - HLD - POLR3B POLR3B 1 1 Johan den Dunnen
00326859 4H-54 PubMed: Wolf 2007 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326860 4H-47 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326861 4H-55 PubMed: Wolf 2014 family, 2 affected - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 2 Johan den Dunnen
00326862 4H-49 PubMed: Wolf 2007 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326863 4H-50 PubMed: Wolf 2005 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326864 4H-51 PubMed: Wolf 2005 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326865 4H-52 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326866 4H-53 PubMed: Wolf 2005 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326867 4H-59 PubMed: Wolf 2007 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326868 4H-60 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326869 4H-56 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326870 4H-57 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326871 4H-62 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326872 4H-46 PubMed: Timmons 2006 - - no - Europe-West - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326873 4H-68 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326874 4H-61 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326875 4H-63 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326876 4H-69 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326877 4H-64 PubMed: Wolf 2014 family, 2 affected - no - white - 0 - - HLD - POLR3B POLR3B 1 2 Johan den Dunnen
00326878 4H-65 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 1 1 Johan den Dunnen
00326879 4H-76 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326880 4H-67 PubMed: Wolf 2014 - - no - Mediterranean - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326881 4H-73 PubMed: Wolf 2014 family, 2 affected - no - Mediterranean - 0 - - HLD - POLR3B POLR3B 2 2 Johan den Dunnen
00326882 4H-70 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326883 4H-84 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326884 4H-71 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326885 4H-90 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326886 4H-98 PubMed: Wolf 2014 - - no - Europe-North - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326887 4H-74 PubMed: Wolf 2014 - - no - Mediterranean - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326888 4H-75 PubMed: Wolf 2007 - - no - Mediterranean - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326889 4H-77 PubMed: Vazquez-Lopez 2008 - - yes - Mediterranean - 0 - - HLD - POLR3A POLR3A 1 1 Johan den Dunnen
00326890 4H-79 PubMed: Wolf 2014 family, 2 affected - no - white - 0 - - HLD - POLR3A POLR3A 2 2 Johan den Dunnen
00326891 4H-87 PubMed: Wolf 2014 family, 2 affected - yes - Mediterranean - 0 - - HLD - POLR3B POLR3B 1 2 Johan den Dunnen
00326892 4H-36 PubMed: Wolf 2014 - - no - - - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326893 4H-80 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326894 4H-81 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326895 4H-82 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326896 4H-83 PubMed: Wolf 2014 - - no - white - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326897 4H-104 PubMed: Wolf 2014 family, 2 affected - no - white - 0 - - HLD - POLR3B POLR3B 2 2 Johan den Dunnen
00326898 4H-85 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326899 4H-86 PubMed: Wolf 2014 - - no - Europe-West - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326900 4H-93 PubMed: Ozgen 2005 - - no - Europe-West - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326901 4H-88 PubMed: Wolf 2014 - - yes - Mediterranean - 0 - - HLD - POLR3B POLR3B 1 1 Johan den Dunnen
00326902 4H-89 PubMed: Wolf 2014 - - no - Mediterranean - 0 - - HLD - POLR3A POLR3A 2 1 Johan den Dunnen
00326903 4H-91 PubMed: Bekiesinska-Figatowska 2010 family, 2 affected - yes - Mediterranean - 0 - - HLD - POLR3A POLR3A 1 2 Johan den Dunnen
00326904 4H-95 PubMed: Wolf 2014 - - no - Europe-Central - 0 - - HLD - POLR3B POLR3B 2 1 Johan den Dunnen
00326905 4H-92 PubMed: Wolf 2014 - - yes - Mediterranean - 0 - - HLD - POLR3A POLR3A 1 1 Johan den Dunnen
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