Disease #02549 (Segawa (Segawa syndrome), OMIM:605407)

Official abbreviation Segawa
Name Segawa syndrome
OMIM ID 605407
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 1 gene TH
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-06-20 08:22:59 +02:00 (CEST)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00372033 178193 - - M ? Germany - - - - - Segawa Clinical Segawa syndrome; Dopa-responsive Dystonia TH TH 2 1 Andreas Laner
00411611 - - - - - - - - - - - Segawa - TH TH 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00411991 family PubMed: Ludecke 1995 2-generation family, 2 affected, unaffected heterozygous carrier parents/relatives - - Germany - - - - - Segawa see paper; ... TH TH 1 2 Johan den Dunnen
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