Term Name: Nil-Deshwan neurodevelopmental syndrome
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.
Ontology: Human Disease [DOID:0070652]   ( DOID:0070652 )

Relationships
is a type of: autosomal dominant disease syndrome