Visit Metagene.de!
Summary
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE SPG28
609340
OMIM = Online Medalian Inheritance of Men
101008
14q22.1
rare
autosomal recessive
mutation in the DDHD1 gene
symptoms
defect of walking, running, rising or climbing
hyperreflexia
hypertonia, spasticity
neuropathy
onset, adolescent
onset, childhood
pyramidal signs
skoliosis, kyphoskoliosis
laboratory finding
Literature
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017