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Disease association ontology term - MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

Term summary

ID
MONDO:0010477
Name
blepharophimosis - intellectual disability syndrome, MKB type
Ontology or CV name
Disease association
Definition
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

Parents

Annotation

Disease association

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

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Genes: