Rett syndrome, congenital variant

Preferred Label : Rett syndrome, congenital variant;

Type : Phenotype, molecular basis known;

Description : The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box G1 gene (FOXG1, 164874.0001);

Prefixed ID : #613454;

Details

Origin ID

613454;

UMLS CUI

C3150705;

Currated CISMeF NLP mapping
- FOXG1 syndrome (disorder) [SNOMED CT concept]
- Rett Syndrome, Congenital Variant [NCIt concept]
DO Cross reference
- Rett syndrome [DO Concept]
Genes related to phenotype
- Forkhead box g1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Apraxia [HPO term]
- Aspiration [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruxism [HPO term]
- Bulbous nose [HPO term]
- Chorea [HPO term]
- Constipation [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired social interactions [HPO term]
- Inappropriate crying [HPO term]
- Intellectual disability, severe [HPO term]
- Irritability [HPO term]
- Kyphosis [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Pachygyria [HPO term]
- Pes planus [HPO term]
- Poor eye contact [HPO term]
- Progressive microcephaly [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Spasticity [HPO term]
- Sporadic [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Tongue thrusting [HPO term]
ORDO concept(s)
- Atypical Rett syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FOXG1 syndrome (disorder) [SNOMED CT concept]
- Rett Syndrome, Congenital Variant [NCIt concept]

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