3MC syndrome 2

Summary
Definition
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
Super Class
3MC syndrome
External Links
Disease Ontology
DOID:0060576
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5648 MASP1 MBL associated serine protease 1
78989 COLEC11 collectin subfamily member 11
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48740 Mannan-binding lectin serine protease 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 53 in total
HPO ID HPO Term
HP:0000202 Orofacial cleft
HP:0000316 Hypertelorism
HP:0000365 Hearing impairment
HP:0000369 Low-set ears
HP:0000377 Abnormal pinna morphology
HP:0000494 Downslanted palpebral fissures
HP:0000506 Telecanthus
HP:0000508 Ptosis
HP:0000537 Epicanthus inversus
HP:0000581 Blepharophimosis
Displaying all 3 entries
Gene ID Gene Symbol Description
10584 COLEC10 collectin subfamily member 10
5648 MASP1 MBL associated serine protease 1
78989 COLEC11 collectin subfamily member 11

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024