Human genes for linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 1 [DOID:0111808]
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 HCCS on chromosome Xp22.2.
Synonyms: linear skin defects with multiple congenital anomalies 1, DOID:0111808, MCOPS7, microphthalmia-dermal aplasia-sclerocornea syndrome, Microphthalmia with linear skin defect syndrome ...