has material basis in germline mutation in HMGB3 X-linked disease X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome https://www.malacards.org/card/microphthalmia_syndromic_13 GARD:0017709 OMIM:300915 Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome MEDGEN:813072 Maine microphthalmos DOID:0111811 UMLS:C3806742 microphthalmia, syndromic 13 MONDO:0010485 microphthalmia, syndromic type 13 colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. MCOPS13 multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic microphthalmia