linear skin defects with multiple congenital anomalies 1 (DOID:0111808)
Alliance: disease page
Synonyms: MCOPS7; Microphthalmia with linear skin defect syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; MIDAS syndrome; syndromic microphthalmia 7; syndromic microphthalmia type 7
Alt IDs: OMIM:309801, MESH:C537466
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.