Disease #06742 (CHDFIDD (Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder), OMIM:617360)

Official abbreviation CHDFIDD
Name Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
OMIM ID 617360
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 CDK13
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00434048 - - - - - - - - - - - CHDFIDD neurodevelopmental disorder, speech disorder, 5th finger clinodactyly - CDK13 1 1 Marketa Wayhelova
00435260 261044 - - M no ? (unknown) - - - - - CHDFIDD Intellectual disability, Delayed speech and language development, Poor motor coordination, Agenesis of maxillary lateral incisor CDK13 CDK13 1 1 Andreas Laner
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