Rauch-steindl syndrome

Preferred Label : Rauch-steindl syndrome;

Symbol : RAUST;

Type : Phenotype, molecular basis known;

Prefixed ID : #619695;

Details

Origin ID

619695;

UMLS CUI

C5562061;

Genes related to phenotype
- Nuclear receptor-binding set domain protein 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Anxiety [HPO term]
- Attached earlobe [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral renal hypoplasia [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperactivity [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Periorbital fullness [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent crus of helix [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Sacral dimple [HPO term]
- Short chin [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Telecanthus [HPO term]
- Thin vermilion border [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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