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Atypical Rett syndrome
3 OMIM references -
4 associated genes
53 connected diseases
24 signs/symptoms
Disease Type of connection
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
West syndrome
X-linked non-syndromic intellectual deficit
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Coffin-Siris syndrome
Familial multiple meningioma
Giant cell glioblastoma
Atypical teratoid tumor
Familial rhabdoid tumor
Neurofibromatosis type 3
Intellectual deficit - sparse hair - brachydactyly
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
1p36 deletion syndrome
Greenberg dysplasia
Reynolds syndrome
Shprintzen-Goldberg syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Adams-Oliver syndrome
Anophthalmia / microphthalmia - esophageal atresia
Autosomal dominant hypohidrotic ectodermal dysplasia
Chronic myeloid leukemia
Colobomatous microphthalmia
Cornelia de Lange syndrome
Familial partial lipodystrophy associated with PPARG mutations
Hyperlipidemia type 3
Hypotrichosis - lymphedema - telangiectasia
Isolated anophthalmia - microphthalmia
Lipoprotein glomerulopathy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Sea-blue histiocytosis
Septo-optic dysplasia
Syndromic diarrhea
Wolf-Hirschhorn syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Alveolar rhabdomyosarcoma
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Xeroderma pigmentosum complementation group C
- Atypical RTT
- Rett syndrome variant

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

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:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
CDKL5 O76039300203
FOXG1 P55316164874
MECP2 P51608300005
NTNG1 Q9Y2I2608818
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