All individuals with variants in gene DALRD3

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00453487 FamPat1/19DG0509 PubMed: Lentini 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M - Saudi Arabia - - - - - DEE see paper; ..., normal spontaneous vaginal delivery, history of placental insufficiency and oligohydramnios; birth weight 2.25kg (−2.2 SD); severe developmental delay; not mobile; no speech; 7m-seizures, myoclonic jerks, remains frequent and poorly controlled by antiepileptic medications; EEG independent multifocal epileptic discharges predominantly over anterior head region bilaterally as well as over the right temporal and right parietal regions; axial and peripheral hypotonia with dystonic like movement and generalized muscle wasting; no microcephaly; mild diffuse brain parenchymal volume loss with diffuse paucity of myelin within brain parenchyma; moderate-severe conductive hearing loss left ear, mild conductive hearing loss right ear; subtle facial dysmorphia, small left ear; severe gastroesophageal reflux disease necessitating GT tube placement and fundoplication at age 4 years, no visual tracking or social smile 1 2 Johan den Dunnen
00453488 FamPat2/19DG0510 PubMed: Lentini 2020 sister F - - - - - - - DEE see paper; ..., birth Cesarean section due to breech presentation and oligohydramnios in addition to placental insufficiency, weight 2.5kg (4th centile); severe developmental delay; immobile; no speech; 6m-epilepsy ensued, initially as brief episodes of flexion tonic spasm head followed by myoclonic seizures, reasonably controlled by antiepileptic medications; EEG markedly high voltage and slow background for age along with slow generalized polyspike and wave activity; central and peripheral hypotonia with dystonic like movements and generalized muscle wasting; microcephaly; brain normal topographical and morphological appearance infratentorial and supratentorial structures; subtle facial dysmorphia; 1d-vomiting and chocking; mild congenital heart disease resolving spontaneously; ectopic right kidney; bilateral optic disc pallor 1 1 Johan den Dunnen
00453489 patient Journal: Zhang 2024 - M - - - - - - - DEE see paper; ..., uncomplicated pregnancy, born term by Cesarean section (previous Cesarean section); severe developmental delay; progressively immobile, can walk some steps unaided; childhood seizures after febrile episode, regression psychomotor skills, focal clonic seizures with impaired awareness to bilateral seizures, often in clusters up to 10, during night/early morning, as teenager, interictal subtle myoclonus hands and fingers; EEG intermittent focal epileptic phenomena in temporal regions, slow background activity without normal differentiation, high amplitude slow waves over frontotemporal regions; axial hypotonic, extremities slightly hypertonic, initially higher, later low tendon reflexes with extensor plantar responses, some ataxia of gait and hands; no mmicrocephaly; brain enlargement of central and peripheral CSF spaces, normal aspect white matter, basal ganglia, thalamus, and brainstem, arteriovenous malformation right cerebellar hemisphere, otherwise normal cerebellum, thickened skull by broad diploic space 1 1 Johan den Dunnen
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