Disease #05104 (neuropathy, peripheral)

Official abbreviation -
Name neuropathy, peripheral
OMIM ID -
Inheritance -
Individuals reported having this disease 23
Phenotype entries for this disease 21
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-12-05 03:05:09 +01:00 (CET)
Date last edited N/A


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00055330 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 33 Johan den Dunnen
00055332 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 15 Johan den Dunnen
00055337 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 1 Johan den Dunnen
00055339 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 1 Johan den Dunnen
00055342 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 6 Johan den Dunnen
00055348 - - - - - - - - - - - neuropathy, peripheral peripheral neuropathy GJB3 GJB3 1 2 Johan den Dunnen
00056462 - PubMed: Mandich 2010 2-generation family, affected father/son M no Italy - - - - - neuropathy, peripheral peripheral neuropathy, early-onset HSPB1 HSPB1 1 2 Johan den Dunnen
00183315 ASHG2018-P1122 Chelban ASHG2018 P1122 families - - - - - 1 - - neuropathy, peripheral severe primary axonal peripheral neuropathy, optic atrophy, blindness, severe muscle weakness/wasting, wheelchair-bound PDXK PDXK 1 1 Johan den Dunnen
00207404 111314 - - F yes Turkey - - - - - neuropathy, peripheral demyelinating axonal neuropathy SH3TC2 SH3TC2 1 1 Andreas Laner
00265880 03443 - - F yes Pakistan - - - - - neuropathy, peripheral - KY KY 1 1 Beenish Arif
00270539 108123 - - F ? Yugoslavia - - - - - neuropathy, peripheral HPOs: Mixed demyelinating and axonal polyneuropathy KCNH2 KCNH2 1 1 Andreas Laner
00397593 patient - - F yes United States Italy - - - - EDS, neuropathy, peripheral Easy bruising Velvety skin Elastic like skin Chronic musclskeletal pain Hypermobile joints TNXB TNXB 1 1 Noelle Pastor
00466591 FamAPatI1 Journal: Ramos 2025 2-generation family, affected parent /2 children - - Belgium - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement - POLR3A 1 3 Johan den Dunnen
00466592 FamAPatII1 Journal: Ramos 2025 child - - Belgium - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement - POLR3A 1 1 Johan den Dunnen
00466593 FamAPatII2 Journal: Ramos 2025 child - - Belgium - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement - POLR3A 1 1 Johan den Dunnen
00466594 FamB Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; claw toes, claw hands; independent wheelchair transfers; no central nervus system involvement; abnormal teeth; demyelinating sensorimotor pattern - POLR3A 1 1 Johan den Dunnen
00466595 FamC Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; pess planus; walks (unstable); ataxia; MRI brain normal; growth hormone deficiency; demyelinating sensorimotor pattern, secondary axonal degeneration - POLR3A 1 1 Johan den Dunnen
00466596 FamD Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; hammer toes, limitations on elbow,, knee flexion, ankle flexion; independent wheelchair transfers; intellectual disability; abnormal teeth - POLR3A 1 1 Johan den Dunnen
00466597 FamE Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; kyphosis; walks (unstable); intellectual disability, epilepsy (myoclonic and myoclonis-astatic); MRI brain normal; abnormal teeth - POLR3A 1 1 Johan den Dunnen
00466598 FamFPatI1 Journal: Ramos 2025 2-generation family, affected parent/child - - United States - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pes planus, hammer toes; independent wheelchair transfers; no central nervus system involvement; MRI brain suggestive of chronic small vessel ischemic gliosis; short stature; absent lateral antebrachial cutaneous sensory nerve action potential, blink reflexes 19.2 msec - POLR3A 1 2 Johan den Dunnen
00466599 FamFPatII1 Journal: Ramos 2025 child - - United States - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; assisted walking; no central nervus system involvement; short stature - POLR3A 1 1 Johan den Dunnen
00466600 FamG Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - Australia - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; bilateral cavo-varus feet requiring surgery; walks (unstable); no central nervus system involvement - POLR3A 1 1 Johan den Dunnen
00466601 FamH Journal: Ramos 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - neuropathy, peripheral see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; kyphoscolios, pectus carinatum; wheelchair bound; cerebellar atrophy; atxia - POLR3A 1 1 Johan den Dunnen
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