| Term Name: | linear skin defects with multiple congenital anomalies 1 |
|---|---|
| Synonyms: | MCOPS7, Microphthalmia with linear skin defect syndrome, microphthalmia-dermal aplasia-sclerocornea syndrome, MIDAS syndrome, syndromic microphthalmia 7, syndromic microphthalmia type 7 |
| Definition: | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. |
| Ontology: | Human Disease [DOID:0111808] ( DOID:0111808 ) |