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1 OMIM reference -
1 associated gene
35 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
35 OMIM references -
25 associated genes
2 signs/symptoms
Rett syndrome
X-linked non-syndromic intellectual deficit

MECP2 ACSL4
AGTR2
ALG13
ARHGEF6
ARX
DLG3
FTSJ1
GDI1
HCFC1
IL1RAPL1
IQSEC2
MAGT1
MECP2
MED12
MID2
PAK3
RAB39B
RPS6KA3
SYP
TSPAN7
UPF3B
ZNF41
ZNF674
ZNF711
ZNF81


COMMON
GENES
MECP2



Citations in the biomedical literature:


Rett syndrome
MECP2
X-linked non-syndromic intellectual deficit
ACSL4 AGTR2 ALG13 ARHGEF6 ARX DLG3
FTSJ1 GDI1 HCFC1 IL1RAPL1 IQSEC2 MAGT1
MED12 MID2 PAK3 RAB39B RPS6KA3
SYP TSPAN7 UPF3B ZNF41 ZNF674 ZNF711
ZNF81



Rett syndrome
X-linked non-syndromic intellectual deficit

Synonym(s):
(no synonyms)

Synonym(s):
- X-linked non-specific intellectual deficit

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
35 OMIM references -
No MeSH references


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


Rett syndrome
X-linked non-syndromic intellectual deficit

Very frequent
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Microcephaly
- Movement disorder
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arnold-Chiari anomaly
- Arthrogryposis
- Auto-aggressivity / auto-mutilation
- Cardiac rhythm disorder / arrhythmia
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Restricted joint mobility / joint stiffness / ankylosis
- Small foot


Very frequent
- X-linked recessive inheritance