has material basis in germline mutation in
HMGB3
X-linked disease
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OMIM:300915
Orphanet:431140
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
GARD:17709
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