HPO ID | HPO Term |
---|---|
HP:0002376 | Developmental regression |
HP:0011443 | Abnormality of coordination |
HP:0012547 | Abnormal involuntary eye movements |
HP:0004305 | Involuntary movements |
HP:0100710 | Impulsivity |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0002509 | Limb hypertonia |
HP:0012444 | Brain atrophy |
HP:0000774 | Narrow chest |
HP:0000316 | Hypertelorism |
Gene ID | Gene Symbol | Description |
---|---|---|
1759 | DNM1 | dynamin 1 |
523 | ATP6V1A | ATPase H+ transporting V1 subunit A |
781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
8867 | SYNJ1 | synaptojanin 1 |
2571 | GAD1 | glutamate decarboxylase 1 |
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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