X-linked intellectual disability panel. 99-gene NGS panel.

Imported from GeneReviews

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention-deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.

Imported from Human Phenotype Ontology (HPO)

• Alopecia
• Bowel incontinence
• Hypogonadism
• Neurodegeneration
• Psychosis
• Seizure
• Spastic paraplegia
• Urinary incontinence
• Polyneuropathy
• Hyperpigmentation of the skin
• Paraparesis
• Atypical behavior
• Slurred speech
• Mental deterioration
• Truncal ataxia
• Blindness
• Dementia
• Incoordination
• Loss of speech
• Limb ataxia
• Abnormal cerebral white matter morphology
• Attention deficit hyperactivity disorder
• Hearing impairment
• Lower limb muscle weakness
• Urinary bladder sphincter dysfunction
• Impaired vibration sensation at ankles
• Elevated circulating long chain fatty acid concentration
• Visual loss
• Primary adrenal insufficiency
• Bulbar palsy
• Impotence