PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
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acrofacial dysostosis, Catania type
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aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
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blepharonasofacial malformation syndrome
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brachydactyly-nystagmus-cerebellar ataxia syndrome
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craniofaciofrontodigital syndrome
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