ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

3 OMIM references -
4 associated genes
24 signs/symptoms

Intellectual deficit, X-linked - psychosis - macroorchidism

Atypical Rett syndrome


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

Citations in the biomedical literature:

Intellectual deficit, X-linked - psychosis - macroorchidism		Atypical Rett syndrome
	Synonym(s): - Lindsay-Burn syndrome - PPM-X		Synonym(s): - Atypical RTT - Rett syndrome variant

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant		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

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


COMMON SIGNS	- EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus

Intellectual deficit, X-linked - psychosis - macroorchidism		Atypical Rett syndrome
	Very frequent - Macroorchidism / macrotestes - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Abnormal gait - Long / large ear Occasional - Psychic / psychomotor regression / dementia / intellectual decline - Scoliosis - Structural anomalies of the cardio-circulatory system		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 - Fine hair - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - Long philtrum - Long / large / bulbous nose - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Thick lips - Thin / hypoplastic ala nasi - Urinary / renal lithiasis / kidney stones / nephritic colic