ODCs

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Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Atypical Rett syndrome

3 OMIM references -
4 associated genes
24 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

Atypical Rett syndrome

ARID1B	(UniProt - OMIM)	CDKL5	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)	FOXG1	(UniProt - OMIM)
		MECP2	(UniProt - OMIM)
		NTNG1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCA2	(0.89)	MECP2

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		Atypical Rett syndrome
	Synonym(s): - Nicolaides-Baraitser syndrome		Synonym(s): - Atypical RTT - Rett syndrome variant

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal 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	- Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus

Intellectual deficit - sparse hair - brachydactyly		Atypical Rett syndrome
	Very frequent - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - High vaulted / narrow palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Joint / articular deformation - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / retracted lips - Triangular face Frequent - Abnormal implantation of hair - Abnormally placed nipples - Blepharophimosis / short palpebral fissures - Eczema - High arched eyebrows - Long / thick / curved lashes / trichomegaly / polytrichia - Narrow nasal bridge - Rippled skin - Scoliosis - Short stature / dwarfism / nanism - Terminal broadening / clubbing of toes - Terminal / third phalangeal bone of fingers broadened / deviated - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Advanced bone age - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epiphyseal anomaly - Herniae		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 / large / bulbous nose - Movement disorder - Thick lips - Thin / hypoplastic ala nasi - Urinary / renal lithiasis / kidney stones / nephritic colic