A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.

http://www.orpha.net/ORDO/Orphanet_2149

A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.

Orphanet

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2149

All ages

X-linked dominant

Autosomal recessive

Autosomal dominant

OMIM:608098

OMIM:608097

OMIM:617201

ICD-10:Q04.8

OMIM:300049

OMIM:612881

UMLS:C5680679

OMIM:615544

ICD-11:LA05.5Y

Nodular neuronal heterotopia

ORPHA:2149

http://www.orpha.net/ORDO/Orphanet_163209

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

ORDO:Orphanet_2149

Nodular neuronal heterotopia

Worldwide AND has_point_prevalence_range : Unknown

http://www.orpha.net/ORDO/Orphanet_163209

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791