Table 2a. [Other Genes of Interest in...]. - GeneReviews®

Gene(s)	Differential Diagnosis Disorder	MOI	Features of Differential Diagnosis Disorder
SMN1	Spinal muscular atrophy	AR	↓ fetal movement Arthrogryposis Severe congenital hypotonia Cardiopulmonary compromise	Tongue fasciculations ↓ or absent deep tendon reflexes
GAA	Pompe disease	AR	Profound hypotonia Respiratory distress	Hypertrophic cardiomyopathy rather than dilated cardiomyopathy
>10 genes ¹	Zellweger spectrum disorder	AR	Profound hypotonia Respiratory distress	Rhizomelic chondrodysplasia punctata & biochemical peroxisomal abnormalities
>40 genes ²	Congenital disorders of glycosylation	AR (XL)	Hypotonia Liver disease Cardiomyopathy	Seizures Stroke-like episodes

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Gene(s)	Differential Diagnosis Disorder	MOI	Features of Differential Diagnosis Disorder
Gene(s)	Differential Diagnosis Disorder	MOI	Overlapping w/perinatal & congenital neuromuscular subtypes of GSD IV	Distinguishing from perinatal & congenital neuromuscular subtypes of GSD IV
SMN1	Spinal muscular atrophy	AR	↓ fetal movement Arthrogryposis Severe congenital hypotonia Cardiopulmonary compromise	Tongue fasciculations ↓ or absent deep tendon reflexes
GAA	Pompe disease	AR	Profound hypotonia Respiratory distress	Hypertrophic cardiomyopathy rather than dilated cardiomyopathy
>10 genes ¹	Zellweger spectrum disorder	AR	Profound hypotonia Respiratory distress	Rhizomelic chondrodysplasia punctata & biochemical peroxisomal abnormalities
>40 genes ²	Congenital disorders of glycosylation	AR (XL)	Hypotonia Liver disease Cardiomyopathy	Seizures Stroke-like episodes