LADD syndrome is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. [chginc.org]

Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis. [chginc.org]

Variants in this gene are associated with a range of phenotypes that include generalized epilepsy with febrile seizures, early infantile epileptic encephalopathy, Dravet syndrome and intractable childhood epilepsy, severe myoclonic epilepsy of infancy [chginc.org]