Linear skin defects with multiple congenital anomalies 1

Definition

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.

Also known as HCCS microphthalmia with linear skin defects syndrome, linear skin defects with multiple congenital anomalies 1, linear skin defects with multiple congenital anomalies 1, X-linked dominant, microphthalmia with linear skin defects syndrome caused by mutation in HCCS — per MONDO

Also identified as

• DOID 0111808 per MONDO
• OMIM 309801 per MONDO
• UMLS C0796070 per MONDO