ZFIN Human Disease: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

OBO ID: DOID:0081324

Term Name:	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss		Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/35861243/
References:	OMIM:620071
Ontology:	Human Disease ( DOID:0081324 )

Relationships

is a type of:	autosomal recessive intellectual developmental disorder autosomal recessive intellectual developmental disorder Show first 5 Terms

OTHER neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PSMC1	psmc1a psmc1b	?Birk-Aharoni syndrome	620071

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None