Intellectual disability, and Chorea

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

• Intellectual disability
• Global developmental delay
• Poor speech
• Chorea
• Involuntary movements

SOURCES: OMIM MENDELIAN

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).For a discussion of genetic heterogeneity of ADSD, see ADSD1 (OMIM ).

• Intellectual disability
• Dementia
• Anxiety
• Mental deterioration
• Parkinsonism

SOURCES: OMIM ORPHANET MENDELIAN

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME Is also known as generalized epilepsy and paroxysmal dyskinesia|gepd

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'

CATARACT 11, MULTIPLE TYPES; CTRCT11 Is also known as cataract, posterior polar, 4|cpp4|ctpp4

• Intellectual disability
• Cataract
• Blindness
• Hypertonia
• Microphthalmia

SOURCES: OMIM MESH MENDELIAN

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

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

• Intellectual disability
• Seizures
• Ataxia
• Spasticity
• Cognitive impairment

SOURCES: OMIM MESH ORPHANET MENDELIAN

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

• Intellectual disability
• Generalized hypotonia
• Motor delay
• Hyperreflexia
• Dysarthria

SOURCES: ORPHANET MESH OMIM MENDELIAN