Disease #01705

Official abbreviation CMT-4A
Name Charcot-Marie-Tooth disease, type 4A (CMT-4A)
OMIM ID 214400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene GDAP1
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Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00103674 ? PubMed: Boerkoel 2003 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103675 ? PubMed: Moroni 2009 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103677 ? PubMed: Moroni 2009 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103681 ? PubMed: Sevilla 2008 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103684 ? PubMed: Claramunt 2005 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103685 11743579-FamDUK1403 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103690 11743579-FamDUK1402 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103691 ? PubMed: Chung 2008 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103693 ? PubMed: Moroni 2009 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103703 ? PubMed: Bouhouche 2007 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103704 ? PubMed: Shagina 2010 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103705 12499475-FamCMT109 PubMed: Nelis 2002 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs F;M - Turkey - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 2 Johan den Dunnen
00103710 12499475-FamCMT139 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 2 Johan den Dunnen
00103713 ? PubMed: Moroni 2009 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103716 11743579-FamDUK1404 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103718 ? PubMed: Moroni 2009 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103721 ? PubMed: Kabzinska 2006 - - - - - - 0 - - CMT-4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103723 11743579-FamDUK1405 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - 0 - - CMT-4A - GDAP1 GDAP1 1 1 Johan den Dunnen
00103724 12499475-FamPN860 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - 0 - - CMT-4A see paper; ... GDAP1 GDAP1 1 2 Johan den Dunnen
00103725 12499475-FamCMT111 PubMed: Nelis 2002 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M - Turkey - - 0 - - CMT-4A see paper; ... GDAP1 GDAP1 1 3 Johan den Dunnen
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