TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
A rare genetic neurodevelopmental disorder characterized by global developmental delay congenital heart defects generalized hypertrichosis and dysmorphic facial features most commonly triangular face thick arched eyebrows widely spaced eyes posteriorly rotated low set ears depressed nasal bridge broad nasal root and tip and pointed chin.
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 September 2023.
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TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome?
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