microcephaly-microcornea syndrome, Seemanova type
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0024458
disorder of visual system
is_a
Seemanova Lesny syndrome
related
Seemanova-Lesny syndrome
exact
X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation
related
microcephaly microcornea syndrome Seemanova type
related