Search Ontology:
Human Disease

neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

Term ID
DOID:0081099
Synonyms
  • autosomal recessive mental retardation 36
Definition
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/30296593/
References
Ontology
Human Disease   ( DOID:0081099 )
Relationships
is a type of
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Genes Involved
Zebrafish Models