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ENPilarowski-Bjornsson Syndrome (PILBOS)
Alias:
Developmental Delay and Speech Apraxia with or Without Seizures
Pilbos
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
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Pilarowski-Bjornsson Syndrome, is also known as developmental delay and speech apraxia with or without seizures. An important gene associated with Pilarowski-Bjornsson Syndrome is CHD1 (Chromodomain Helicase DNA Binding Protein 1). Related phenotypes are global developmental delay and generalized hypotonia
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MALACARDS
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