FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development intellectual disability dysarthria pseudobulbar signs cryptorchidism and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
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.
Newly diagnosed with
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome?
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