Disease #04040 (MRT41 (mental retardation, autosomal recessive, type 41 (MRT-41)), OMIM:615637)

Official abbreviation MRT41
Name mental retardation, autosomal recessive, type 41 (MRT-41)
OMIM ID 615637
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KPTN
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

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00034387 - Pajusalu Submitted Brother and sister with shared phenotype and genotype. - - Estonia Estonian - - yes - MRT41 Macrocephaly Intellectual disability, moderate Behavioral abnormality Seizures KPTN KPTN 1 2 Sander Pajusalu
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