X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
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.
MONDO:0000425
X-linked disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016073
syndromic microphthalmia
is_a
MCOPS13
related
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
exact
microphthalmia, syndromic 13
related
microphthalmia, syndromic type 13
exact
SPAC57A10.09c