Please note: Any medical or genetic information present in this entry is not intended as a diagnosis of your problem, but rather is provided as a helpful guide for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Information is not necessarily complete. Please see your doctor for diagnosis and treatment.

Please note: DNAtraffic database is the project under construction and information on this page is not finished yet.

Rett syndrome (RTT)

RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

OTHER NAME(S): AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED
RETT SYNDROME, ATYPICAL, INCLUDED

ABREVIATION(S):
RTT

TYPE: microcephaly, mental retardation (MR)

Related patway(s): heterochromatin formation

DNAtraffic protein(s) related to disease: MECP2

OMIM: 312750

Last modification date: July 30, 2011