Conditions / Genetic
developmental delay with sleep apnea
info · Genetic
An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome
An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23.
Signs and symptoms
- Tented upper lip vermilion
- Flexion contracture
- Hypotonia
- Gastroesophageal reflux
- Hypertelorism
- Constipation
- Cleft palate
- Absent speech
- Joint hypermobility
- Feeding difficulties
Also known as: DDSA