HMSN1Hereditary Motor And Sensory Neuropathy Type 1
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13) Dysmorphic facial and digital features were also reported in a child with partial trisomy of the 17p12pter region and HMSN1.
Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.