Disease #01906 (MADA (dysplasia, mandibuloacral, with type A lipodystrophy (MADA)), OMIM:248370)

Official abbreviation MADA
Name dysplasia, mandibuloacral, with type A lipodystrophy (MADA)
OMIM ID 248370
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene LMNA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00334476 - - - - no Brazil - - - - - MADA diagnosis: rMED/DBQD SLC26A2 SLC26A2 1 1 Cynthia Silveira
00385685 Fam6 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - MADA see paper; ... SLURP1 SLURP1 1 1 Johan den Dunnen
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