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van Maldergem syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Uniprot Description An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.
Mondo Term and Equivalent IDs
MONDO:0014242:  van Maldergem syndrome 2
DOID:0080586: 
UMLS:C3809875: