HMSN1

AcronymDefinition
HMSN1Hereditary Motor And Sensory Neuropathy Type 1
References in periodicals archive ?
(13) Dysmorphic facial and digital features were also reported in a child with partial trisomy of the 17p12pter region and HMSN1. (14) In a 7 year-old girl with CMT1A due to the duplication 17p10-p12 dysmorphic facial features, dislocation of hips, talipes, developmental delay, premature adrenarche, and deep palmar creases supplemented the phenotype.
Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.