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.
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Synonyms:
atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality
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MedGen: MeSH: OMIM: MSeqDR : Genes:
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Disease Causing ClinVar Variants
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