HPO ID | HPO Term |
---|---|
HP:0000467 | Neck muscle weakness |
HP:0000252 | Microcephaly |
HP:0000518 | Cataract |
HP:0000007 | Autosomal recessive inheritance |
HP:0002093 | Respiratory insufficiency |
HP:0006698 | Dilatation of the ventricular cavity |
HP:0001252 | Hypotonia |
HP:0009053 | Distal lower limb muscle weakness |
HP:0003394 | Muscle spasm |
HP:0001249 | Intellectual disability |
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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