HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0002098 | Respiratory distress |
HP:0001252 | Hypotonia |
HP:0003324 | Generalized muscle weakness |
HP:0000275 | Narrow face |
HP:0001522 | Death in infancy |
HP:0003623 | Neonatal onset |
HP:0001284 | Areflexia |
HP:0002943 | Thoracic scoliosis |
HP:0000298 | Mask-like facies |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024