Neoplasm, and Choreoathetosis

Low match BENIGN HEREDITARY CHOREA

BENIGN HEREDITARY CHOREA Is also known as benign familial chorea|bhc

• Gait disturbance
• Abnormality of movement
• Chorea

SOURCES: OMIM ORPHANET MENDELIAN

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

• Intellectual disability
• Global developmental delay
• Growth delay
• Muscular hypotonia
• Anemia

SOURCES: ORPHANET MENDELIAN

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

• Seizures
• Dystonia
• Generalized tonic-clonic seizures
• Dyskinesia
• Choreoathetosis

SOURCES: OMIM MENDELIAN

Low match PAROXYSMAL KINESIGENIC DYSKINESIA

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10|pkd|paroxysmal kinesigenic choreathetosis|dystonia, familial paroxysmal|pkc|familial paroxysmal kinesigenic dyskinesia|familial pkd|paroxysmal kinesigenic dyskinesia|dyt10|paroxysmal kinesigenic choreoathetosis

• Seizures
• Neoplasm
• Muscle weakness
• Dystonia
• Myoclonus

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial

• Global developmental delay
• Generalized hypotonia
• Muscular hypotonia
• Babinski sign
• Difficulty walking

SOURCES: OMIM MESH MENDELIAN

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

• Seizures
• Ataxia
• Dystonia
• Anxiety
• Apnea

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

• Seizures
• Generalized hypotonia
• Pallor
• Generalized tonic-clonic seizures
• Dyskinesia

SOURCES: MESH OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Spasticity

SOURCES: OMIM MENDELIAN

Low match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6

Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

• Seizures
• Cognitive impairment
• Dysarthria
• Gait disturbance
• Behavioral abnormality

SOURCES: OMIM MENDELIAN

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40

• Seizures
• Generalized hypotonia
• Spasticity
• Myoclonus
• Cerebral cortical atrophy

SOURCES: OMIM MENDELIAN