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1 OMIM reference -
1 associated gene
35 signs/symptoms

COMMON GENES: 1

Severe neonatal-onset encephalopathy with microcephaly

1 OMIM reference -
1 associated gene
No signs/symptoms info

Rett syndrome

Severe neonatal-onset encephalopathy with microcephaly

MECP2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	MECP2

Citations in the biomedical literature:

Rett syndrome		Severe neonatal-onset encephalopathy with microcephaly
	Synonym(s): (no synonyms)		Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

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

Rett syndrome
	Very frequent - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Intellectual deficit / mental / psychomotor retardation / learning disability - 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
Severe neonatal-onset encephalopathy with microcephaly
(no data available)