MedGen

Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (NEDLAAD) is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients). Additional features seen in some patients include motor delay, mild distal skeletal anomalies, mild ocular anomalies, and mild nonspecific dysmorphic features (Pavinato et al., 2023). [from OMIM]

Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy; some may lose ambulation. Additional features include cognitive decline or learning disabilities. Brain imaging shows cerebellar atrophy (Delle Vedove et al., 2022). [from OMIM]