Disease #01663 (aciduria, argininosuccinic (argininosuccinate lyase deficiency), OMIM:207900)

Official abbreviation -
Name aciduria, argininosuccinic (argininosuccinate lyase deficiency)
OMIM ID 207900
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 44
Phenotype entries for this disease 6
Associated with 1 gene ASL
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

44 entries on 1 page. Showing entries 1 - 44.
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00080936 - Trujillano et al., submitted unaffected parents - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) Argininosuccinic aciduria (OMIM:207900) ASL ASL 1 1 Daniel Trujillano
00108488 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108489 - - - M - Morocco - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108490 - - - - - Poland - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108491 - - - M - Italy - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108492 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108493 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108494 - - - - yes - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) late-onset ASL ASL 2 1 Johan den Dunnen
00108496 - - - F - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108497 - - - M - Germany Egyptian - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108498 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108499 - - - F - - Arabic - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108500 - - - F - - Arabic - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108501 - - - F - - Arabic - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108502 - - - F - Turkey - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108503 - - - F - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108504 - - - F - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108505 - - - M - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108506 - - - F - Bulgaria - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108507 - - - M - China - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108508 - - - M - Czech Republic - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108509 - - - M - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108510 - - - F - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108511 - - - M - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108512 - - - M - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108513 - - - M - Netherlands - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108514 - - - M - China - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108515 - - - M - Spain Gypsy - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108518 - - - M - Italy - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108519 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108522 - - - M - Turkey - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108524 - - - - yes - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) neonatal-onset ASL ASL 2 1 Johan den Dunnen
00108525 - - - - yes - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108526 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108528 - - - - - Turkey - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108529 - - - F - Belgium - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108532 - - - - - Turkey - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108533 - - - M - Israel Arabic - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108535 - - - M - Lebanon - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108536 - - - M - Finland - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108541 - - - M - Israel Arabic - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00108542 - - - - - - - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) - ASL ASL 2 1 Johan den Dunnen
00248293 Fam11 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus affected - - - Druze - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) see paper; … ASL ASL 1 1 Johan den Dunnen
00248294 Fam12 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus not affected - - Kuwait - - 0 - - aciduria, argininosuccinic (argininosuccinate lyase deficiency) see paper; … ASL ASL 1 1 Johan den Dunnen
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