Table 3.

Differential Diagnosis of ZSD in a Newborn with Profound Hypotonia

Gene(s) / Genetic MechanismDisorderMOI
DMPK Congenital myotonic dystrophy type 1AD
MTM1 XL myotubular myopathy XL
PWCR / imprinting defect Prader-Willi syndrome See footnote 1.
RYR1
SELENON 		Multiminicore disease (OMIM 255320, 602771)AR
SMN1 Spinal muscular atrophy AR

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; PWCR = Prader-Willi critical region; XL = X-linked

1.

The risk to the sibs of an affected child of having PWS depends on the genetic mechanism that resulted in the absence of expression of the paternally contributed 15q11.2-q13 region.

From: Zellweger Spectrum Disorder

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