Rare Disease Library

Seizures-intellectual disability due to hydroxylysinuria syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Superficial epidermolytic ichthyosis

Ichthyosis bullosa of Siemens · SEI

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Infantile neuroaxonal dystrophy

INAD · INAD1

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Benign focal seizures of adolescence

Adolescent benign focal crisis

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

Benign non-familial infantile seizures

Benign partial epilepsy of infancy with complex partial seizures

Benign partial epilepsy with secondarily generalized seizures in infancy

Benign partial infantile seizures

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with grand mal seizures on awakening · GTCA

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Epilepsy with reading-induced seizures

EwRIS

Familial mesial temporal lobe epilepsy with febrile seizures

Folinic acid-responsive seizures

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

Genetic epilepsy with febrile seizure plus

GEFS+ · Generalized epilepsy with febrile seizures plus

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Microcephaly-seizures-intellectual disability-heart disease syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome

OBSOLETE: Benign infantile seizures associated with mild gastroenteritis

OBSOLETE: Facial asymmetry-temporal seizures syndrome

OBSOLETE: Generalized epilepsy and praxis-induced seizures

OBSOLETE: Marseilles fever

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation