Alsing syndrome

MONDO:0021856

An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.

Also known as: atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality

1 clinical trial for this condition and its sub-types, 0 tagged with Alsing syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Inherited kidney disorder (317)

Including sub-types (1) Tagged with Alsing syndrome (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.