All individuals with variants in gene CHASERR

3 entries on 1 page. Showing entries 1 - 3.
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00457963 Pat1 PubMed: Ganesh 2024 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - NDD see paper; ..., 37w-birth weight 3.4 kg (60th), length 47 cm (15th), OFC 35 cm (75th); 2y-weight 10.1 kg (17th), height 74.5 cm (<1st), OFC 44.8 cm (1st); facial dysmorphisms; EEG 1m-normal, 4y-epileptiform discharges (generalized polyspike-and-wave); EEG background slowing, 4y-rhythmic delta slowing; 15m-infantile spasms, myoclonic seizures; no photosensitive seizures, no generalized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m- first neurodevelopmental symptoms/delay; 7y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress 4 1 Johan den Dunnen
00457964 Pat2 PubMed: Ganesh 2024 2-generation family, 1 affected, unaffected non carrier parents M - France - - - - - NDD see paper; ..., 37w-birth weight 4.0 kg (90th), length 54 cm (90th), OFC 36 cm (50th); 2y-weight 13.4 kg (70th), hight 95 cm (70th), OFC 47.5 cm (30th); facial dysmorphisms; EEG 2y6m-normal, 4y-no epileptiform discharges; EEG background slowing, 4y-continuous theta-delta slowing; no seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 5y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress 1 1 Johan den Dunnen
00457965 Pat3 PubMed: Ganesh 2024 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - NDD see paper; ..., 37w-birth weight 3.6 kg (75th), length 50.5 cm (62th), OFC 36.8 cm (93th); 2y-weight 9.8 kg (3rd), hight 81 cm (2nd), OFC 45 cm (1st); facial dysmorphisms; EEG 10d-posterior slowing, 4y-epileptiform discharges (generalized spike-and-wave); EEG background slowing, 4y-polymorphic rhythmic slowing; 2y-infantile spasms, tonic seizures; no photosensitive seizures, no eneralized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 4y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress 1 1 Johan den Dunnen
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