Term Name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Synonyms: NEDGTH
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.
Ontology: Human Disease [DOID:0081324]   ( DOID:0081324 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder