DISEASE: Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay
Entry
H02693 Disease
Name
Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay
Description
Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDD with absent corneal reflex and developmental delay (CCDDRD) caused by mutations in NAUROG1 has been reported. NEUROG1 encodes Ngn1 which is a basic helix-loop-helix transcription factor essential for the formation of the proximal cranial sensory ganglia for cranial nerves V and VIII.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Strabismus or ocular motility disorders
9C82 Disorders of extraocular muscles
H02693 Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay
