ZFIN Human Disease: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

OBO ID: DOID:0081262

Term Name:	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		Search Ontology:
Synonyms:
Definition:	An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/34314705/
References:	KEGG:H02463 OMIM:619556
Ontology:	Human Disease ( DOID:0081262 )

Relationships

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

OTHER intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TNPO2	tnpo2a tnpo2b	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	619556

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None