Beck-fahrner syndrome

Preferred Label : Beck-fahrner syndrome;

Symbol : BEFAHRS;

CISMeF acronym : BEFAHRS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the TET oncogene family, member 3 gene (TET3, 613555.0001);

Prefixed ID : #618798;

Details

Origin ID

618798;

UMLS CUI

C5394097;

Genes related to phenotype
- Tet methylcytosine dioxygenase 3 [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Cardiomegaly [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Depression [HPO term]
- EEG abnormality [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Impaired social interactions [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Lacrimal duct stenosis [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Periventricular leukomalacia [HPO term]
- Pes planus [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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