Intellectual developmental disorder with seizures and language delay
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Alexandra Roston
- William Gibson
- view full author information
Available tests
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Square face
Square face
- MedGen UID: 371253
- Concept ID: C1832127
- Finding: Finding
Abnormality of head or neck
- Thick eyebrow
Thick eyebrow
- MedGen UID: 377914
- Concept ID: C1853487
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
- Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- Tapered finger
- Abnormality of the musculoskeletal system
- Flat occiput
Flat occiput
- MedGen UID: 332439
- Concept ID: C1837402
- Finding: Finding
Abnormality of the musculoskeletal system
- Flat occiput
- Abnormality of the nervous system
- Anxiety
Anxiety
- MedGen UID: 1613
- Concept ID: C0003467
- Finding: Finding
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- EEG with polyspike wave complexes
EEG with polyspike wave complexes
- MedGen UID: 867392
- Concept ID: C4021757
- Finding: Finding
Abnormality of the nervous system
- EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz)
- MedGen UID: 869260
- Concept ID: C4023685
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Increased theta frequency activity in EEG
Increased theta frequency activity in EEG
- MedGen UID: 1617724
- Concept ID: C4531060
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, profound
Intellectual disability, profound
- MedGen UID: 892508
- Concept ID: C3161330
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Myoclonic absence seizure
Myoclonic absence seizure
- MedGen UID: 869094
- Concept ID: C4023512
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Anxiety
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