- Concept UI
- M0023877
- Scope Note
- 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)
- Terms
-
Rett Syndrome
Preferred Term
Term UI
T046006
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Term UI
T372086
Date11/03/1999
LexicalTag
NON
ThesaurusID
-
Rett's Syndrome
Term UI
T046005
Date12/05/1988
LexicalTag
EPO
ThesaurusID
-
Rett Disorder
Term UI
T372088
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
Rett's Disorder
Term UI
T372089
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
Term UI
T782107
Date12/13/2010
LexicalTag
NON
ThesaurusID
-
Cerebroatrophic Hyperammonemia
Term UI
T372087
Date11/03/1999
LexicalTag
NON
ThesaurusID