ODCs

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3 OMIM references -
4 associated genes
24 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Atypical Rett syndrome

Trisomy Xq28


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDKL5	(0.78)	MECP2

Citations in the biomedical literature:

Atypical Rett syndrome		Trisomy Xq28
	Synonym(s): - Atypical RTT - Rett syndrome variant		Synonym(s): - Distal duplication Xq - Telomeric duplication Xq

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: (no data available)

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


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

Atypical Rett syndrome		Trisomy Xq28
	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 - 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		Very frequent - Blepharophimosis / short palpebral fissures - Delayed bone age - Epicanthic folds - Everted lower lip - Ptosis - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tented upper lip - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal gait - Inguinal / inguinoscrotal / crural hernia - Pectus excavatum Occasional - Restricted joint mobility / joint stiffness / ankylosis