Conditions / Genetic
neuronal ceroid lipofuscinosis 15
info · Genetic
A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.
Signs and symptoms
- Motor delay
- Global developmental delay
- Respiratory insufficiency
- Gastrostomy tube feeding in infancy
- Generalized hypotonia
- Hyperhidrosis
- Neurogenic bladder
- EEG abnormality
- Abnormality of temperature regulation
- Sensory neuropathy