Disease #05527 (MRD44 (mental retardation, autosomal dominant, type 44 (MRD-44)), OMIM:617061)

Official abbreviation MRD44
Name mental retardation, autosomal dominant, type 44 (MRD-44)
OMIM ID 617061
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 TRIO
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2018-12-02 17:43:30 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00408050 194894 - - M ? Turkey - - - - - MRD44 Global developmental delay, Autistic behavior, Intellectual disability TRIO TRIO 1 1 Andreas Laner
00435328 262720 - - F no Germany - - - - - MRD44 Tall stature, Microcephaly, Delayed speech and language development, Intellectual disability, Global developmental delay, Motor delay TRIO TRIO 1 1 Andreas Laner
00464408 321808 - - M no Germany - - - - - MRD44 Neurodevelopmental delay, Strabismus, Hypotonia, Intellectual disability, Motor delay, Delayed speech and language development, Microcephaly TRIO TRIO 1 1 Andreas Laner
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