Disease #00851 (SHMS;MRD17 (Schuurs-Hoeijmakers syndrome (SHMS, mental retardation, autosomal dominant, type 17 (MRD-17))), OMIM:615009)

Official abbreviation SHMS;MRD17
Name Schuurs-Hoeijmakers syndrome (SHMS, mental retardation, autosomal dominant, type 17 (MRD-17))
OMIM ID 615009
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PACS1
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

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00092244 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - SHMS;MRD17 severe IDD, microcephaly, facial dysmorphisms, myopia, bifid uvula and submucous cleft, dysplastic pulmonary, aortic valves, failure to thrive progressive ataxia and cerebellar atrophy; neurodegeneration progressive cerebellar atrophy PACS1 PACS1 1 1 Johan den Dunnen
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