HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0010286 | Abnormal salivary gland morphology |
HP:0000816 | Abnormality of Krebs cycle metabolism |
HP:0100022 | Abnormality of movement |
HP:0003202 | Skeletal muscle atrophy |
HP:0000238 | Hydrocephalus |
HP:0004322 | Short stature |
HP:0001251 | Ataxia |
HP:0012401 | Abnormal urine alpha-ketoglutarate concentration |
HP:0001276 | Hypertonia |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024