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Abnormality of neuronal migration

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Cortical Malformations, Group II; Disorder, Neuronal Migration; Disorders, Neuronal Migration; Malformations Due to Abnormal Neuronal Migration; Malformations of Cortical Development, Group II; Malformations Secondary to Abnormal Neuronal Migration; Migration Disorder, Neuronal; Migration Disorders, Neuronal; Neuronal Migration Disorder; Neuronal Migration Disorders
HPO: HP:0002269


An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of neuronal migration

Conditions with this feature

3-Hydroxyisobutyric aciduria
MedGen UID:
Concept ID:
Disease or Syndrome
A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.
X-linked intellectual disability-short stature-overweight syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked intellectual developmental disorder-12 (XLID12) is characterized by borderline to severe intellectual disability with variable neurologic features, short stature, and elevated body mass index (BMI) (Kumar et al., 2015).
Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
Concept ID:
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Muscular dystrophy-dystroglycanopathy type B6
MedGen UID:
Concept ID:
Disease or Syndrome
MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Heterotopia, periventricular, X-linked dominant
MedGen UID:
Concept ID:
Disease or Syndrome
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
MedGen UID:
Concept ID:
Disease or Syndrome
In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] = -2 SD) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.
Galloway-Mowat syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).

Professional guidelines


Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V
Int J Dev Neurosci 2023 Nov;83(7):581-599. Epub 2023 Aug 13 doi: 10.1002/jdn.10290. PMID: 37574439
Koenig M, Dobyns WB, Di Donato N
Eur J Paediatr Neurol 2021 Nov;35:147-152. Epub 2021 Oct 7 doi: 10.1016/j.ejpn.2021.09.013. PMID: 34731701
Khoo HM, Gotman J, Hall JA, Dubeau F
Curr Neurol Neurosci Rep 2020 Oct 30;20(12):59. doi: 10.1007/s11910-020-01082-y. PMID: 33123826

Recent clinical studies


Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP
Genes (Basel) 2022 Dec 16;13(12) doi: 10.3390/genes13122377. PMID: 36553645Free PMC Article
Stafford Johnson DB, Brennan P, Dwyer AJ, Toland J
Ir J Med Sci 1997 Jul-Sep;166(3):135-8. doi: 10.1007/BF02943590. PMID: 9256546

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