Nil-Deshwan neurodevelopmental syndrome

Term ID

DOID:0070652

Synonyms

Definition

A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. (2)

References

• MIM:621265

Ontology

Human Disease   ( DOID:0070652 )