Disease #05884 (MRD45 (mental retardation, autosomal dominant, type 45 (MRD45)), OMIM:617600)

Official abbreviation MRD45
Name mental retardation, autosomal dominant, type 45 (MRD45)
OMIM ID 617600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CIC
Associated tissues -
Disease features -
Remarks -
Date created 2020-12-09 22:17:59 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00383044 185309 - - M no Germany - - - - - MRD45 Delayed speech and language development, Behavioral abnormality, Seizure, Increased serum lactate, Increased CSF lactate, Hyperglycinemia CIC CIC 1 1 Andreas Laner
00435250 260881 - - M no ? (unknown) - - - - - MRD45 Autism, Neurodevelopmental delay, Poor speech CIC CIC 1 1 Andreas Laner
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