Nystagmus, and Generalized seizures

Low match PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3

gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3 Is also known as generalized epilepsy and paroxysmal dyskinesia;gepd;gepd

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

SOURCES: MONDO ORPHANET OMIM MESH UMLS

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

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

SOURCES: MONDO UMLS OMIM

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

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

SOURCES: OMIM UMLS

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1

Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992).The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1 ) and GLUT1 deficiency syndrome (OMIM ) (Rotstein et al., 2009). Genetic Heterogeneity of Alternating Hemiplegia of ChildhoodSee also AHC2 (OMIM ), caused by mutation in the ATP1A3 gene (OMIM ).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Nystagmus

SOURCES: OMIM UMLS MONDO

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

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

SOURCES: UMLS OMIM MONDO

Low 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

Low 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

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hypertelorism

SOURCES: OMIM

Low match SPINOCEREBELLAR ATAXIA 10; SCA10

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 10; SCA10 Is also known as ;sca10

• Autosomal dominant inheritance
• Seizures
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: UMLS GARD MONDO ORPHANET MESH OMIM DOID SCTID

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 Is also known as ;autosomal recessive spinocerebellar ataxia type 10; scar10

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

SOURCES: OMIM DOID UMLS MONDO ORPHANET