Table 2a. [Selected Genes of Interest in...]. - GeneReviews®

Gene	Disorder	MOI	Features of This Disorder
GNB1	GNB1 encephalopathy	AD	ID/DD, behavioral issues, seizures, abnormal muscle tone, movement disorders, GI findings	Movement disorders less common Macrocephaly Infantile-onset hypotonia that develops into hypertonia & spasticity
GNAO1	GNAO1-related disorder	AD	Severe seizure onset shortly after birth May be assoc w/prominent movement disorder No distinguishing brain MRI findings Central hypotonia, global DD, severe ID	Movement disorder may be severe; most persons show mixed pattern of permanent or paroxysmal hyperkinetic & hypertonic movements that affect the whole body. Overlap between movement disorders & epilepsy in most affected persons
LIAS	LIAS-related hyperglycinemia, lactic acidosis, & seizures (OMIM 614462)	AR	Hypotonia & seizures assoc w/↑ serum glycine & lactate in 1st days of life DD Death in childhood	Hyperglycinemia
LRPPRC	Mitochondrial complex IV deficiency, nuclear type 5 (OMIM 220111)	AR	ID/DD w/speech delay, hypotonia, ataxia, seizures ↑ serum lactate	Lesions in brain stem & basal ganglia in brain imaging
MECP2	MECP2-related severe neonatal encephalopathy (See MECP2 Disorders.)	XL	ID, seizures, rigidity, muscle hypotonia, microcephaly Early death due to respiratory failure	Muscle hypotonia Microcephaly Bilateral polymicrogyria Not reported in females

Gene

Disorder

MOI

Features of This Disorder

Key features

Distinguishing this disorder from WARS2-related DEE

GNB1

GNB1 encephalopathy

ID/DD, behavioral issues, seizures, abnormal muscle tone, movement disorders, GI findings

Movement disorders less common
Macrocephaly
Infantile-onset hypotonia that develops into hypertonia & spasticity

GNAO1

GNAO1-related disorder

Severe seizure onset shortly after birth
May be assoc w/prominent movement disorder
No distinguishing brain MRI findings
Central hypotonia, global DD, severe ID

Movement disorder may be severe; most persons show mixed pattern of permanent or paroxysmal hyperkinetic & hypertonic movements that affect the whole body.
Overlap between movement disorders & epilepsy in most affected persons

LIAS

LIAS-related hyperglycinemia, lactic acidosis, & seizures (OMIM 614462)

Hypotonia & seizures assoc w/↑ serum glycine & lactate in 1st days of life
DD
Death in childhood

Hyperglycinemia

LRPPRC

Mitochondrial complex IV deficiency, nuclear type 5 (OMIM 220111)

ID/DD w/speech delay, hypotonia, ataxia, seizures
↑ serum lactate

Lesions in brain stem & basal ganglia in brain imaging

MECP2

MECP2-related severe neonatal encephalopathy (See MECP2 Disorders.)

ID, seizures, rigidity, muscle hypotonia, microcephaly
Early death due to respiratory failure

Muscle hypotonia
Microcephaly
Bilateral polymicrogyria
Not reported in females

From: WARS2 Deficiency

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