HPO ID | HPO Term |
---|---|
HP:0000064 | Hypoplastic labia minora |
HP:0001272 | Cerebellar atrophy |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0000369 | Low-set ears |
HP:0008665 | Clitoral hypertrophy |
HP:0003623 | Neonatal onset |
HP:0010851 | EEG with burst suppression |
HP:0002650 | Scoliosis |
HP:0009826 | Limb undergrowth |
HP:0012368 | Flat face |
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