Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Mental Retardation, X-Linked » Rett Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Mental Retardation, X-Linked » Rett Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Mental Retardation, X-Linked » Rett Syndrome
Description
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) MeSH
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Approved Indicated Drugs (1)
Phase 3 Indicated Drugs (4)
Other Experimental Indicated Drugs (9)
Organization Involved with Phase 3 Indications (8)
Organization Involved with Phase 2 Indications (25)
Organization Involved with Phase 1 Indications (1)
Organization Involved with Other Experimental Indications (3)
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UMLS Data
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