Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Neu-Laxova syndrome
MONDO:0000179
acrofacial dysostosis, Catania type
MONDO:0007045
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
MONDO:0007143
blepharonasofacial malformation syndrome
MONDO:0007200
brachydactyly-nystagmus-cerebellar ataxia syndrome
MONDO:0007226
craniofaciofrontodigital syndrome
MONDO:0007259