Table 2.

MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes: Frequency of Select Features

FeatureProportion of Persons w/FeatureComments
Short stature 6/6
Chest deformity 6/6Pectus carinatum, pectus excavatum
Kyphosis &/or scoliosis 5/6
Hernia / protruding abdomen 6/6
Cataract 5/6
Developmental delay 5/6Incl gross motor & speech delays
Dysmorphic facies Prominent forehead 5/6
Prominent cheek bones 5/6
Retromicrognathia 6/6
Wide mouth 5/6
Large ears 6/6

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

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