neurodevelopmental disorder with poor growth and behavioral abnormalities

Term ID

DOID:0081444

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (2)

References

• OMIM:620242

Ontology

Human Disease   ( DOID:0081444 )