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Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked(RESDX)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: RESDX; Rolandic epilepsy, impaired intellectual development, and speech dyspraxia; Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Gene (location): SRPX2 (Xq22.1)
Monarch Initiative: MONDO:0010388
OMIM®: 300643

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Speech apraxia
MedGen UID:
Concept ID:
Disease or Syndrome
A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
Focal-onset seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Congenital bilateral perisylvian syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643).

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