HPO ID | HPO Term |
---|---|
HP:0011003 | High myopia |
HP:0011197 | EEG with focal spike waves |
HP:0011344 | Severe global developmental delay |
HP:0002514 | Cerebral calcification |
HP:0000007 | Autosomal recessive inheritance |
HP:0001290 | Generalized hypotonia |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003593 | Infantile onset |
HP:0002878 | Respiratory failure |
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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