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Early infantile epileptic encephalopathy
9 OMIM references -
10 associated genes
107 connected diseases
No signs/symptoms info
Disease Type of connection
Benign familial infantile seizures
Benign familial neonatal-infantile seizures
Malignant migrating partial seizures of infancy
West syndrome
Benign familial neonatal seizures
Dravet syndrome
Early myoclonic encephalopathy
Generalized epilepsy with febrile seizures-plus context
Infantile epileptic-dyskinetic encephalopathy
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Partington syndrome
Spasticity - intellectual deficit - X-linked epilepsy
X-linked lissencephaly with abnormal genitalia
X-linked non-syndromic intellectual deficit
Huntington disease
Juvenile Huntington disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Romano-Ward syndrome
Amyotrophic lateral sclerosis
Cystic fibrosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Catecholaminergic polymorphic ventricular tachycardia
Chudley-McCullough syndrome
Familial multiple nevi flammei
Sturge-Weber syndrome
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Juvenile myoclonic epilepsy
CLN3 disease
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Familial atrial fibrillation
Familial short QT syndrome
Jervell and Lange-Nielsen syndrome
Leber congenital amaurosis
Senior-Loken syndrome
Spinocerebellar ataxia type 14
APC-related attenuated familial adenomatous polyposis
Autosomal agammaglobulinemia
Autosomal dominant hypocalcemia
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive primary microcephaly
CLN5 disease
Congenital non-communicating hydrocephalus
Desmoid tumor
Familial Alzheimer-like prion disease
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial drusen
Familial hypocalciuric hypercalcemia type 2
Familial isolated dilated cardiomyopathy
Fatal familial insomnia
Gardner syndrome
Gerstmann-Straussler-Scheinker syndrome
Hereditary cerebral cavernous malformation
Hereditary sensory and autonomic neuropathy type 2
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Leber hereditary optic neuropathy
MELAS syndrome
MERRF syndrome
Maternally-inherited Leigh syndrome
Monosomy 22q13
Muscular dystrophy, Selcen type
Noonan syndrome
Posterior polar cataract
Postsynaptic congenital myasthenic syndromes
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
SHORT syndrome
Sporadic Leigh syndrome
Turcot syndrome with polyposis
Young adult-onset Parkinsonism
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Congenital stationary night blindness
Distal 22q11.2 microdeletion syndrome
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Pseudohypoaldosteronism type 2D
Thyroid hypoplasia
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
- Early infantile epileptic encephalopathy with suppression-bursts
- Ohtahara syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
9 OMIM references -
No MeSH references

No signs/symptoms info available.