Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech hypotonia hypoplastic or absent corpus callosum and facial dysmorphism (such as long face frontal bossing hypertelorism downslanting palpebral fissures and tented upper lip). Additional reported features include microcephaly seizures gait ataxia scoliosis and syndactyly of fingers among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome?
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