Disease #00815 (MRD7 (mental retardation, autosomal dominant, type 7 (MRD-7)), OMIM:614104)

Official abbreviation MRD7
Name mental retardation, autosomal dominant, type 7 (MRD-7)
OMIM ID 614104
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene DYRK1A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00057262 - PubMed: Rump 2016 - M yes - - - - - - MRD7 Microcephaly HP:0000252 - DYRK1A 1 1 Birgit Sikkema-Raddatz
00080988 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD7 Mental retardation, autosomal dominant 7 (OMIM:614104) DYRK1A DYRK1A 1 1 Daniel Trujillano
00092260 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - MRD7 moderate IDD, intractable absence epilepsy, acquired microcephaly, failure to thrive; GLUT-DS like phenotype (hypoglycorrhagia, low CSF:serum glucose ratio) DYRK1A - - 1 Johan den Dunnen
00381536 184171 - - M no Germany - - - - - MRD7 Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay DYRK1A DYRK1A 1 1 Andreas Laner
00390083 184171 - - M no Germany - - - - - MRD7 Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay DYRK1A DYRK1A 1 1 Andreas Laner
00416379 194756 - - M no - - - - - - MRD7 Neurodevelopmental delay, Delayed CNS myelination, Cataract, Microcephaly DYRK1A DYRK1A 1 1 Andreas Laner
00416851 23 PubMed: Rump 2016 - M - - - - - - - MRD7 brain magnetic resonance imaging: wide peripheral liquor spaces; additional clinical featureslow birth weight, brachycephaly, hypertonia, severe developmental delay (consanguineous parents) DYRK1A DYRK1A 1 1 LOVD
00433660 - - - - - - - - - - - MRD7 moderate intellectual disability - DYRK1A 1 1 Marketa Wayhelova
00435334 263288 - - M no Germany - - - - - MRD7 Global developmental delay, Delayed speech and language development, Motor delay, Failure to thrive, Abnormal aortic arch morphology DYRK1A DYRK1A 1 1 Andreas Laner
00453460 303605 - - M no Germany - - - - - MRD7 Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Neurodevelopmental delay, Motor delay, Delayed speech and language development DYRK1A DYRK1A 1 1 Andreas Laner
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