Disease #04169

Official abbreviation PTBHS
Name Poretti-Boltshauser syndrome (PTBHS)
OMIM ID 615960
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene LAMA1
Associated tissues -
Disease features -
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Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00027188 - PubMed: Aldinger 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Canada Iranian - 0 - - PTBHS see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ... LAMA1 LAMA1 1 1 Johan den Dunnen
00027189 - PubMed: Aldinger 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Canada European - 0 - - PTBHS see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ... LAMA1 LAMA1 2 1 Johan den Dunnen
00027190 - PubMed: Aldinger 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Canada European - 0 - - PTBHS see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ... LAMA1 LAMA1 2 1 Johan den Dunnen
00054778 - A MIcalizzi EJHG submitted - M no Switzerland - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00054783 - A MIcalizzi EJHG submitted - F no Albania - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00054784 - A MIcalizzi EJHG submitted - M no Germany - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054787 - A MIcalizzi EJHG submitted 3 affected siblings; 4 unaffected siblings; heterozygous carriers parents F no Bosnia and Herzegovina - - 0 - - PTBHS - LAMA1 LAMA1 1 3 Enza Maria Valente
00054789 - A MIcalizzi EJHG submitted - M no Germany - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054790 - A MIcalizzi EJHG submitted - F no Serbia - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00054791 - A MIcalizzi EJHG submitted - F no Russian Federation - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054792 - A MIcalizzi EJHG submitted - M yes Spain - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00054793 - A MIcalizzi EJHG submitted - F no Italy - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054794 - A MIcalizzi EJHG submitted - M no Turkey - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054796 - A MIcalizzi EJHG submitted - F no Italy - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054799 - A MIcalizzi EJHG submitted - F no Italy - - 0 - - PTBHS - LAMA1 LAMA1 2 1 Enza Maria Valente
00054800 - A MIcalizzi EJHG submitted 2 unaffected siblings; heterozygous carriers parents M no Turkey - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00054801 - A MIcalizzi EJHG submitted - M no Albania - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00056388 - A MIcalizzi EJHG submitted - F no Bosnia and Herzegovina - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00056389 - A MIcalizzi EJHG submitted - M no Bosnia and Herzegovina - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
00056390 - A MIcalizzi EJHG submitted - M no Bosnia and Herzegovina - - 0 - - PTBHS - LAMA1 LAMA1 1 1 Enza Maria Valente
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