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Brain Development Abnormality

MedGen UID:: 474392
•Concept ID:: C3272759
•: Disease or Syndrome

Synonym:

Brain Developmental Abnormality

Definition

A group of congenital or acquired disorders that affect the normal development of the brain. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBrain Development Abnormality

Developmental disorder
- Neurodevelopmental disorder
  - Developmental disorder
    - Neurodevelopmental disorder
      - Developmental disorder
        Neurodevelopmental disorder
        Brain Development Abnormality
        Abnormality of neuronal migration
        Classical Lissencephalies and Subcortical Band Heterotopias
        Cobblestone lissencephaly
        Cobblestone lissencephaly without muscular or ocular involvement
        Walker-Warburg congenital muscular dystrophy
        Gray matter heterotopia
        Periventricular heterotopia
        Subcortical heterotopia
        Lissencephaly
        2-3-layered lissencephaly
        6-layered lissencephaly
        Agyria
        Classic lissencephaly
        Focal lissencephaly
        Lissencephaly due to LIS1 mutation
        Lissencephaly due to TUBA1A mutation
        Lissencephaly type 3
        Lissencephaly type 1 due to doublecortin gene mutation
        Macrogyria
        Microlissencephaly
        Miller Dieker syndrome
        Norman-Roberts syndrome
        Unlayered lissencephaly
        X-linked lissencephaly with abnormal genitalia
        Periventricular nodular heterotopia
        Chromosome 5Q14.3 deletion syndrome, distal
        Heterotopia, periventricular, associated with chromosome 5P anomalies
        Heterotopia, periventricular, X-linked dominant
        Periventricular heterotopia with microcephaly, autosomal recessive
        Hydranencephaly
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Microcephalic primordial dwarfism due to ZNF335 deficiency
        Microcephaly 1, primary, autosomal recessive
        Microcephaly 11, primary, autosomal recessive
        Microcephaly 12, primary, autosomal recessive
        Microcephaly 13, primary, autosomal recessive
        Microcephaly 14, primary, autosomal recessive
        Microcephaly 15, primary, autosomal recessive
        Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
        Microcephaly 3, primary, autosomal recessive
        Microcephaly 4, primary, autosomal recessive
        Microcephaly 5, primary, autosomal recessive
        Microcephaly 6, primary, autosomal recessive
        Microcephaly 7, primary, autosomal recessive
        Microcephaly 8, primary, autosomal recessive
        Microcephaly 9, primary, autosomal recessive
        Porencephaly
        Acquired porencephaly
        Familial porencephaly
        Primary microcephaly
        microgyria
        Pontocerebellar hypoplasia type 2
        Pontocerebellar hypoplasia type 2A
        Pontocerebellar hypoplasia type 2B
        Pontocerebellar hypoplasia type 2C
        Pontocerebellar hypoplasia type 2D
        Pontocerebellar hypoplasia type 2E
        Pontocerebellar hypoplasia, type 2F
        Subcortical band heterotopia
        Anterior predominant subcortical band heterotopia
        Diffuse subcortical band heterotopia
        Posterior predominant subcortical band heterotopia

Professional guidelines

PubMed

Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup.

Jack CR Jr, Andrews JS, Beach TG, Buracchio T, Dunn B, Graf A, Hansson O, Ho C, Jagust W, McDade E, Molinuevo JL, Okonkwo OC, Pani L, Rafii MS, Scheltens P, Siemers E, Snyder HM, Sperling R, Teunissen CE, Carrillo MC
Alzheimers Dement 2024 Aug;20(8):5143-5169. Epub 2024 Jun 27 doi: 10.1002/alz.13859. PMID: 38934362 Free PMC Article

Comprehensive Review on Alzheimer's Disease: Causes and Treatment.

Breijyeh Z, Karaman R
Molecules 2020 Dec 8;25(24) doi: 10.3390/molecules25245789. PMID: 33302541 Free PMC Article

Amenorrhea: A Systematic Approach to Diagnosis and Management.

Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490

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Recent clinical studies

Diagnosis

Mega Cisterna Magna (MCM) in a man with frotteurism symptoms - a case report.

Błachut M, Dębski PG, Badura-Brzoza K, Świerzy K, Lew-Starowicz Z
Psychiatr Pol 2023 Jun 30;57(3):563-575. doi: 10.12740/PP/147726. PMID: 38043073

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.

Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y
Mol Genet Genomics 2021 Jan;296(1):33-40. Epub 2020 Sep 18 doi: 10.1007/s00438-020-01726-1. PMID: 32944789

Familial Precocious Fetal Abnormal Cortical Sulcation.

Frassoni C, Avagliano L, Inverardi F, Spaccini L, Parazzini C, Rustico MA, Bulfamante G, Righini A
Neuropediatrics 2016 Aug;47(4):253-8. Epub 2016 May 13 doi: 10.1055/s-0036-1583185. PMID: 27177044

See all (3)

Prognosis

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.

Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y
Mol Genet Genomics 2021 Jan;296(1):33-40. Epub 2020 Sep 18 doi: 10.1007/s00438-020-01726-1. PMID: 32944789

See all (1)

Clinical prediction guides

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.

Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y
Mol Genet Genomics 2021 Jan;296(1):33-40. Epub 2020 Sep 18 doi: 10.1007/s00438-020-01726-1. PMID: 32944789

See all (1)

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Brain Development Abnormality

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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