Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF)
OMIM number: 615286
Comments closing date: 09/10/2026
The condition mainly affects brain development and intellectual development. Children typically have developmental delay from infancy or early childhood, including delayed sitting or walking, learning difficulties and delayed or limited speech. - Poor growth, difficulty gaining weight and/or short stature. - Small head size (microcephaly) -Squint/strabismus, particularly inward turning of the eyes. -Differences in facial appearance, such as a prominent or high forehead, widely spaced eyes, a depressed nasal bridge and other distinctive facial features - Low muscle tone (hypotonia), with some individuals later developing increased muscle stiffness or spasticity -Brain changes visible on MRI, which can include differences in the brain's white matter, delayed development of myelin, enlarged fluid spaces, brain atrophy or abnormalities of the corpus callosum - Seizures/epilepsy in some individuals - Behavioural difficulties, including hyperactivity or aggression in some cases Less commonly, dental abnormalities, joint contractures or peripheral nerve problems.
