| Metadata | |
|---|---|
| ID | DOID:0081324 |
| Name | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
| 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. https://pubmed.ncbi.nlm.nih.gov/35861243/ |
| Xrefs | |
| Synonyms |
NEDGTH [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |