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. Author manuscript; available in PMC: 2015 Jun 1.
Published in final edited form as: Am J Med Genet A. 2014 Apr 3;0(6):1503–1511. doi: 10.1002/ajmg.a.36517

TABLE I.

Ontology of Developmental Brain Disorders Included in DBDB

  1. Disorders of connectivity

    1. Autism/autism spectrum disorders

    2. Developmental encephalopathies

    3. Intellectual disability

  2. Epilepsies

  3. Cerebral patterning defects

    1. Holoprosencephaly

  4. Disorders of neural crest and prechordal mesenchyme

    1. Encephalocele

  5. Malformations of cortical development

    1. Disorders of abnormal brain size

    2. Cortical dysgenesis with abnormal cellular proliferation

    3. Malformations due to abnormal neuronal migration

    4. Malformations due to terminal migration and defects in pial limiting membrane

    5. Malformations due to abnormal postmigrational development

    6. Callosal and commisural abnormalities

  6. Malformations of mid-hindbrain

    1. Early anteroposterior and dorsoventral patterning defects, and misspecification of mid-hindbrain germinal zones

    2. Later generalized developmental disorders that significantly affect the brainstem and cerebellum

    3. Localized brain malformations that significantly affect the brainstem and cerebellum

    4. Combined hypoplasia and atrophy in putative prenatal onset degenerative disorders

  7. Movement disorders

    1. Ataxia

    2. Chorea

    3. Dystonia

    4. Parkinsonism

  8. Sensory development abnormalities

    1. Microphthalmia

    2. Optic nerve hypoplasia

    3. Retinal dystrophy

    4. Sensorineural hearing loss

  9. Other