Disease ID | Source | Name | Description |
300887 | OMIM | Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) | A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. The disease is caused by variants affecting the gene represented in this entry. |