SE-ATLAS

Aicardi syndrome Angelman syndrome Angelman syndrome due to a point mutation Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Basement membrane disease Cerebral malformation with epilepsy Cervical spina bifida aperta Cervicothoracic spina bifida aperta Christianson syndrome Cushing syndrome Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome Epilepsy syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Genetic cystic renal disease Glomerular disease Hemimegalencephaly Holoprosencephaly Hypothalamic hamartomas with gelastic seizures Lissencephaly Lumbosacral spina bifida aperta MODY Microlissencephaly-micromelia syndrome Neonatal diabetes mellitus Non-syndromic cerebral malformation due to abnormal neuronal migration Non-syndromic pontocerebellar hypoplasia Non-syndromic renal or urinary tract malformation Open spinal dysraphism Other rare diabetes mellitus Pachygyria-intellectual disability-epilepsy syndrome Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Polymicrogyria with optic nerve hypoplasia Porencephaly Primary glomerular disease Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Rare diabetes mellitus Rare diabetes mellitus type 1 Rare diabetes mellitus type 2 Rare epilepsy Rare insulin-resistance syndrome Rare renal disease Rare renal tubular disease Renal or urinary tract malformation Rett syndrome SHOX-related short stature Schizencephaly Secondary glomerular disease Thoracolumbosacral spina bifida aperta Total spina bifida aperta Tuberous sclerosis complex Upper thoracic spina bifida aperta X-linked intellectual disability-cerebellar hypoplasia syndrome