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Atypical Rett syndrome

3 OMIM references -
4 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Atypical Rett syndrome

Acatalasemia

CDKL5	(UniProt - OMIM)		CAT	(UniProt - OMIM)
FOXG1	(UniProt - OMIM)
MECP2	(UniProt - OMIM)
NTNG1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.49)	CAT

Citations in the biomedical literature:

Atypical Rett syndrome		Acatalasemia
	Synonym(s): - Atypical RTT - Rett syndrome variant		Synonym(s): - Catalase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Atypical Rett syndrome
	Very frequent - Anomalies of ear and hearing - Antitragus abnormal - Camptodactyly of some fingers - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fifth finger - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Dysplastic / thick / grooved fingernails - EEG anomalies - Fine hair - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large / bulbous nose - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Thick lips - Thin / hypoplastic ala nasi - Urinary / renal lithiasis / kidney stones / nephritic colic
Acatalasemia
(no data available)