All individuals with variants in gene FGD4

25 entries on 1 page. Showing entries 1 - 25.
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     
00035801 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035802 - - - - - Germany - - - - - ? suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy 1 1 Andreas Laner
00035803 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035804 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00151860 17564972-FamCMT230 PubMed: Stendel 2007 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - CMT delayed walking, diagnosis infancy, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with decreased sensibility, no scoliosis, absent reflexes lower extremities/present upper 1 1 Johan den Dunnen
00151861 19221294-Fam PubMed: Houlden 2009 5-generation family, affected brother/sister, unaffected heterozygous carrier mother F;M - Ireland Belfast - - - - CMT see paper; ... 1 2 Johan den Dunnen
00151862 17564959-Fam500 PubMed: Delague 2007 5-generation family, 8 affected (F, 7M), unaffected heterozygous carrier parents/relatives F;M yes Lebanon - - - - - CMT early-onset demyelinating neuropathy 1 8 Johan den Dunnen
00151863 17564972-FamNP447 PubMed: Stendel 2007 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - CMT 2y2m-walking, distal weakness marked in the lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities, myelin outfodings 1 1 Johan den Dunnen
00151864 17564972-FamNP3 PubMed: Stendel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? India Tamil - - - - CMT 1y4m-walking, distal weakness mild in lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities 1 1 Johan den Dunnen
00151865 17564959-Fam295 PubMed: Delague 2007 2-generation family, 4 affecteds (4M), unaffected heterozygous carrier parents M yes Algeria - - - - - CMT see paper; ... 1 4 Johan den Dunnen
00151866 17564972-FamCMT244 PubMed: Stendel 2007 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - CMT 1y-walking, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with absent sensibility, sever scoliosis, absent reflexes upper/lower extremities, myelin outfodings 1 1 Johan den Dunnen
00219052 28902413-Pat62 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT CMT4H; no family history 2 1 Johan den Dunnen
00290678 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00300045 Pat-FGD4-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300109 Pat-FGD4-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00397490 Pat1 PubMed: Baudot 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - >21y - - - CMT see paper; born at term, uneventful pregnancy, normal fetal movements, normal delivery; birth weight, length, head circumference normal; no motor delay (-HP:0001270), 14m-walk, mild ataxia (HP:0001251); 5y-walk tip toes (HP:0030051); no intellectual disability (-HP:0001256), bilateral steppage gait (HP:0003376), symmetrical atrophy intrinsic hand muscles (HP:0008954), muscular atrophy below knees (HP:0008944), pes cavus (HP:0001761), slightly diminished distal muscle strength upper and lower limbs; no osteotendinous reflexes (HP:0001315); normal cranial nerve; no scoliosis (-HP:0002650), no ocular signs, no internal organ anomalies, ... 1 1 Sarah El-Bestawi
00397491 Pat2 PubMed: Baudot 2012 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Algeria - >16y - - - CMT - 1 1 Sarah El-Bestawi
00398211 FC646 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - CMT see paper; ..., distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), scoliosis (HP:0002650), Areflexia (HP:0001284), Distal amyotrophy (HP:0003693), Postural instability (HP:0002172), Decreased motor nerve conduction velocity (HP:0003431), Distal sensory impairment (HP:0002936), Demyelinating sensory neuropathy (HP:0011402), Onion bulb formation (HP:0003383) 2 1 Farina Kemper
00398212 FC73 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - CMT see paper;Pes cavus (HP:0001761), Difficulty walking (HP:0002355), Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), scoliosis (HP:0002650), Areflexia (HP:0001284), Distal amyotrophy (HP:0003693), Postural instability (HP:0002172), Distal sensory impairment (HP:0002936), Demyelinating sensory neuropathy (HP:0011402) 2 1 Farina Kemper
00398541 - PubMed: Hyun 2015 3 families - - Korea Korea - - - - CMT - 1 3 Johan den Dunnen
00398542 - PubMed: Hyun 2015 14 families - - Korea Korea - - - - CMT - 1 14 Johan den Dunnen
00398543 - PubMed: Hyun 2015 - - - Korea Korea - - - - CMT - 1 1 Johan den Dunnen
00398544 - PubMed: Hyun 2015 - - - Korea Korea - - - - CMT - 1 1 Johan den Dunnen
00398545 - PubMed: Hyun 2015 2 families - - Korea Korea - - - - CMT - 1 2 Johan den Dunnen
00404077 - - - F - Egypt - - - - - CMT4H 54-y women with progressive weakness and wasting of both upper and lower limbs, trophic changes, stocking and glove hypesthesia, deep sensory loss and pes cavus. Nerve conduction velocity study showed demyelinating neuropathy. 1 3 Sherifa Ahmed Hamed
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.