Brain malformations are individually rare but collectively common causes of developmental
disabilities 1 , 2 , 3 . Many forms of malformation occur sporadically and are associated with …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable …

… JEAN-BAPTISTE RIVIÈRE … Jean-Baptiste Rivière is a molecular geneticist currently working
at Dijon University Hospital (CHU Dijon, France) after a postdoctoral fellowship in Dr. William …

Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN) is a severe
sensorimotor neuropathy associated with mental retardation, dysmorphic features and …

The current standard of care for diagnosis of severe intellectual disability ( ID ) and epileptic
encephalopathy ( EE ) results in a diagnostic yield of ∼50%. Affected individuals …

BACKGROUND. Sporadic vascular malformations (VMs) are complex congenital anomalies
of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/…

Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger
anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an …

Common birthmarks can be an indicator of underlying genetic disease but are often overlooked.
Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but …

Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a
postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic …