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Human Disease

autosomal recessive intellectual developmental disorder 73

Term ID
DOID:0081233
Synonyms
Definition
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/34230638/
References
Ontology
Human Disease   ( DOID:0081233 )
Relationships
is a type of
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Genes Involved
Zebrafish Models