| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to profound intellectual disability, language and motor delays, bilateral congenital/early-onset cataracts, combined malonic and methylmalonic aciduria and microcephaly. Movement disorders including ataxia, orofacial and limb dystonia, myoclonus and tremor have also been reported in the majority of the patients. Some patients may also present with facial dysmorphism including long face, hypertelorism and maxillary hyperplasia. |
