UniProt ID | Protein Name | Source |
---|---|---|
P21589 | 5'-nucleotidase | |
Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
HPO ID | HPO Term |
---|---|
HP:0000252 | Microcephaly |
HP:0001250 | Seizure |
HP:0000823 | Delayed puberty |
HP:0003693 | Distal amyotrophy |
HP:0008736 | Hypoplasia of penis |
HP:0003477 | Peripheral axonal neuropathy |
HP:0007818 | Central heterochromia |
HP:0000007 | Autosomal recessive inheritance |
HP:0002460 | Distal muscle weakness |
HP:0004523 | Long eyebrows |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024