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

• MIM:615286

Ontology

Human Disease   ( DOID:0081099 )