Tolchin-le caignec syndrome

Preferred Label : Tolchin-le caignec syndrome;

Symbol : TOLCAS;

CISMeF acronym : TOLCAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with behavioral abnormalities and variable bone defects;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box 6 gene (SOX6, 607257.0002);

Prefixed ID : #618971;

Details

Origin ID

618971;

UMLS CUI

C5436509;

Genes related to phenotype
- Sry-box 6 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac rhabdomyoma [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Diastasis recti [HPO term]
- Dysgraphia [HPO term]
- Food allergy [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hooded eyelid [HPO term]
- Hypertelorism [HPO term]
- Inverted nipples [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Osteochondroma [HPO term]
- Oxycephaly [HPO term]
- Precocious puberty [HPO term]
- Prominent nose [HPO term]
- Prominent occiput [HPO term]
- Scaphocephaly [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short palpebral fissure [HPO term]
- Submucous cleft hard palate [HPO term]
- Thick eyebrow [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
- Vestibular dysfunction [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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