Disease #04586 (MRD39 (mental retardation, autosomal dominant, type 39 (MRD-39)), OMIM:616521)

Official abbreviation MRD39
Name mental retardation, autosomal dominant, type 39 (MRD-39)
OMIM ID 616521
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 MYT1L
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
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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00402925 192392 - - F no Germany - - - - - MRD39 Generalized-onset seizure, Seizure, Obesity, Intellectual disability, severe, Intellectual disability MYT1L MYT1L 1 1 Andreas Laner
00407970 194348 - - F no Germany - - - - - MRD39 Delayed speech and language development, Behavioral abnormality, Global developmental delay, Neurodevelopmental delay, Urinary incontinence, Low frustration tolerance, Short attention span, Tip-toe gait MYT1L MYT1L 1 1 Andreas Laner
00465255 326284 - - M no Germany - - - - - MRD39 Hypotonia, Delayed speech and language development, Microcephaly MYT1L MYT1L 1 1 Andreas Laner
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