Disease #05601 (CCSPD (camptosynpolydactyly, complex (CCSPD)), OMIM:607539)

Official abbreviation CCSPD
Name camptosynpolydactyly, complex (CCSPD)
OMIM ID 607539
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 BHLHA9
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2019-05-24 15:51:10 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00408129 patient PubMed: Phadke 2016 2-generation family, 2 affected (one fetus), unaffected heterozygous carrier parents F yes India - - - - - CCSPD see paper; ..., polydactyly with two digits arising from dorsum hands, syndactyly, camptodactyly some fingers, dysplastic nails, syndactyly toes, no other malformation, normal growth, normal development - BHLHA9 1 1 Johan den Dunnen
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