Optic atrophy, and Generalized seizures

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11

Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11 Is also known as ;

• Autosomal recessive inheritance
• Seizures
• Ataxia
• Visual impairment
• Optic atrophy

SOURCES: UMLS DOID MONDO OMIM ORPHANET

Medium match OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Ataxia
• Nystagmus

SOURCES: OMIM UMLS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: UMLS MONDO OMIM

Medium match LISSENCEPHALY 8; LIS8

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM MONDO UMLS

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 Is also known as spinocerebellar ataxia with mental retardation and epilepsy;autosomal recessive spinocerebellar ataxia type 12; scar12

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly

SOURCES: MONDO ORPHANET UMLS OMIM DOID

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as ceroid lipofuscinosis, neuronal, 2, variable age at onset, jansky-bielschowsky disease

• Autosomal recessive inheritance
• Seizures
• Pica
• Ataxia
• Visual impairment

SOURCES: OMIM

Medium match MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF Is also known as merrf syndrome;fukuhara syndrome; myoclonus epilepsy associated with ragged-red fibres

• Intellectual disability
• Seizures
• Short stature
• Ataxia
• Sensorineural hearing impairment

SOURCES: GARD OMIM DOID ICD10 MONDO NCIT ORPHANET MESH SCTID

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: MONDO UMLS OMIM

Medium match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as infantile bilateral striatal necrosis;ibsn, bilateral striatal necrosis, infantile, striatal degeneration, familial

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Ataxia
• Nystagmus

SOURCES: OMIM ORPHANET

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3

Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 Is also known as ceroid lipofuscinosis, neuronal, 14;cln14;epm3; pme type 3; progressive myoclonic epilepsy due to kctd7 deficiency; progressive myoclonus epilepsy type 3

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Microcephaly
• Scoliosis

SOURCES: MESH OMIM ORPHANET GARD MONDO UMLS