Disease #05938 (MRD53 (mental retardation, autosomal dominant, type 53 (MRD53)), OMIM:617798)

Official abbreviation MRD53
Name mental retardation, autosomal dominant, type 53 (MRD53)
OMIM ID 617798
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene CAMK2A
Associated tissues -
Disease features -
Remarks -
Date created 2021-05-18 15:07:08 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00391786 142P - - F no Spain - - - - - MRD53 - - CAMK2A 1 1 Alejandro Brea-Fernández
00404794 192233 - - F ? - - - - - - MRD53 Neurodevelopmental delay, Severe global developmental delay; Developmental delay, mental retardation, brother dwarfism with growth hormone treatment, two sisters with developmental delay, several family members in the paternal family with mental retardation CAMK2A CAMK2A 1 1 Andreas Laner
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