Conditions / Syndrome
Nil-Deshwar neurodevelopmental syndrome
info · Syndrome
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
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.
Signs and symptoms
- Gastroesophageal reflux
- Infantile spasms
- Unilateral ptosis
- Laryngomalacia
- Absent speech
- Poor suck
- Chronic constipation
- Clonic seizure
- Diarrhea
- Delayed speech and language development