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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02994 | Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech | ... quadriparesis, and poor or absent speech (NEDGQS) is a novel autosomal recessive syndrome caused by mutations in INPP4A. It has been reported that biallelic INPP4A truncating variants cause a spectrum of neurodevelopmental ... | Congenital malformation | INPP4A [HSA:3631] [KO:K01109] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |