WormBase Tree Display for DO_term: DOID:0081324
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| DOID:0081324 | Name | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. | ||||
| Synonym | Exact | NEDGTH | |||
| Parent | Is_a | DOID:0060308 | |||
| DB_info | Database | OMIM | disease | 620071 | |
| Attribute_of | Gene_by_orthology | WBGene00004502 |
