Disease #06350 (MRD56 (intellectual developmental disorder, autosomal dominant, type 56), OMIM:617854)

Official abbreviation MRD56
Name intellectual developmental disorder, autosomal dominant, type 56
OMIM ID 617854
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene CLTC
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited 2023-10-23 13:45:51 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00406336 194685 - - M ? - Arabia - - - - MRD56 - CLTC - - 1 Andreas Laner
00431256 194685 - - M yes - - - - - - MRD56 Intellectual disability, mild, Global developmental delay, Cerebellar atrophy, Congenital contracture CLTC CLTC 1 1 Andreas Laner
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