Radio-tartaglia syndrome

Preferred Label : Radio-tartaglia syndrome;

Symbol : RATARS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619312;

Details

Origin ID

619312;

UMLS CUI

C5543339;

Genes related to phenotype
- Spen family transcriptional repressor [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Coarse facial features [HPO term]
- Conductive hearing impairment [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Dry skin [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Fetal distress [HPO term]
- Frontal bossing [HPO term]
- Gait imbalance [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hearing impairment [HPO term]
- Hemangioma [HPO term]
- High anterior hairline [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Large earlobe [HPO term]
- Long eyebrows [HPO term]
- Long eyelashes [HPO term]
- Long face [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Oval face [HPO term]
- Periorbital fullness [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Poor eye contact [HPO term]
- Precocious puberty [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal tip [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Small nail [HPO term]
- Striae distensae [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thin upper lip vermilion [HPO term]
- Tremor [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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