Disease #00803

Official abbreviation MRD-8
Name mental retardation, autosomal dominant, type 8 (MRD-8)
OMIM ID 614254
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GRIN1
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Individuals

1 entry on 1 page. Showing entry 1.
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00104570 - - - M no Czech Republic white - 0 - - MRD-8 severe intellectual disability, motor developmental delay, growth retardation, microcephaly, heart defect, hypotonia GRIN1 GRIN1 1 1 Jana Paderova
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