Disease #06577 (MRD47 (Mental retardation, autosomal dominant 47), OMIM:617635)

Official abbreviation MRD47
Name Mental retardation, autosomal dominant 47
OMIM ID 617635
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene STAG1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00431832 214203 - - M no Germany - - - - - MRD47 Intellectual disability, Dry skin, Obesity, Epileptic spasm, Visual impairment, Delayed speech and language development, Hypoplasia of the corpus callosum STAG1 STAG1 1 1 Andreas Laner
00435474 265451 - - F no ? (unknown) - - - - - MRD47 Intrauterine growth retardation, Delayed speech and language development, Global developmental delay, Intellectual disability, Abnormal facial shape, Tooth malposition STAG1 STAG1 1 1 Andreas Laner
00464708 - - - M no China Chinese - - - - MRD47 developmental delay, growth retardation, motor and speech delay STAG1 STAG1 1 1 Ke Wu
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