Term Name: | linear skin defects with multiple congenital anomalies 1 |
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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 ) |