Developmental and epileptic encephalopathy, 31B
- Synonyms
- Developmental and epileptic encephalopathy 31B, autosomal recessive
Summary
Available tests
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
- MedGen UID: 870336
- Concept ID: C4024780
- Finding: Finding
Abnormality of head or neck
- Broad face
Broad face
- MedGen UID: 349223
- Concept ID: C1859680
- Finding: Finding
Abnormality of head or neck
- Gingival overgrowth
Gingival overgrowth
- MedGen UID: 87712
- Concept ID: C0376480
- Finding: Finding
Abnormality of head or neck
- Long palpebral fissure
Long palpebral fissure
- MedGen UID: 340300
- Concept ID: C1849340
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Protruding tongue
Protruding tongue
- MedGen UID: 66831
- Concept ID: C0241442
- Finding: Finding
Abnormality of head or neck
- Almond-shaped palpebral fissure
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Tube feeding
Tube feeding
- MedGen UID: 8641
- Concept ID: C0014327
- Finding: Therapeutic or Preventive Procedure
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Appendicular spasticity
Appendicular spasticity
- MedGen UID: 937224
- Concept ID: C4313257
- Finding: Finding
Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Choking episodes
Choking episodes
- MedGen UID: 906934
- Concept ID: C4280747
- Finding: Pathologic Function
Abnormality of the nervous system
- Clonic seizure
Clonic seizure
- MedGen UID: 66708
- Concept ID: C0234535
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Clonus
Clonus
- MedGen UID: 40341
- Concept ID: C0009024
- Finding: Sign or Symptom
Abnormality of the nervous system
- Colpocephaly
Colpocephaly
- MedGen UID: 98131
- Concept ID: C0431384
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Involuntary movements
Involuntary movements
- MedGen UID: 140884
- Concept ID: C0427086
- Finding: Sign or Symptom
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Multifocal seizures
Multifocal seizures
- MedGen UID: 482664
- Concept ID: C3281034
- Finding: Finding
Abnormality of the nervous system
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Opisthotonus
Opisthotonus
- MedGen UID: 56246
- Concept ID: C0151818
- Finding: Sign or Symptom
Abnormality of the nervous system
- Reduced cerebral white matter volume
Reduced cerebral white matter volume
- MedGen UID: 1815057
- Concept ID: C5706151
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Widened subarachnoid space
Widened subarachnoid space
- MedGen UID: 375826
- Concept ID: C1846151
- Finding: Finding
Abnormality of the nervous system
- Appendicular spasticity
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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