Moreover, SCN2A appears to be one of the major genes in which mutations are detected in nonsyndromic intellectual disability (ID) or autism spectrum disorders (ASDs) by whole-exome sequencing6
DOID_0060041,AUTISMC1000014,DOID_12849
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- Aug 2019
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europepmc.org europepmc.org
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- Jul 2019
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hypothes.is hypothes.is
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- Partial duplication of the middle phalanx of the 4th finger
- Partial duplication of the middle phalanx of the 5th finger
- Rare_or_No_Social_Approaches_of_Showing_and_Directing_Attention
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- Ulnar deviation of the 4th finger
- Ulnar deviation of the 5th finger
- sequence_length_variation
- heteroplasmic mitochondrial inheritance
- Definite_unusual_and_marked_resistance_to_trivial_changes_in_the_environment
- Spontaneous_imitation_limited_to_a_few_familiar_routines_that_are_not_incorporated_into_play
- One_or_More_Relationships_That_Involve_Some_Personal_Shared_Activities
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- Dense calcifications in the cerebellar dentate nucleus
- Disorganization of the anterior cerebellar vermis
- MedicationforNutrition
- OccupationalTherapy
- Speech_tendsOrTended_to_be_more_repetitive_than_most_subject
- One_or_more_activities_that_subject_has_to_preform_in_a_special_way_if_disrupted_appears_to_be_under_MARKED_pressure
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