UniProt | Protein Name |
---|---|
Q969N2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuron differentiation | ||
neuron apoptotic process | ||
attachment of GPI anchor to protein |
HPO ID | HPO Term |
---|---|
HP:0010864 | Intellectual disability, severe |
HP:0011199 | EEG with generalized sharp slow waves |
HP:0011330 | Metopic synostosis |
HP:0011448 | Ankle clonus |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0011842 | Abnormal skeletal morphology |
HP:0012373 | Abnormal eye physiology |
HP:0012378 | Fatigue |
HP:0012718 | Abnormal gastrointestinal tract morphology |
HP:0100704 | Cerebral visual impairment |
Disease ID | Disease Name |
---|---|
OMIM:615399 |
|
OMIM:615398 |
|
ORPHA:369837 |
|
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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: February 17, 2025