ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Craniofacial-deafness-hand syndrome

Spinocerebellar ataxia type 17


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.75)	TBP

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Spinocerebellar ataxia type 17
	Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome		Synonym(s): - HDL4 - Huntington disease-like 4 - SCA17

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536453		External references: 1 OMIM reference - No MeSH references

Craniofacial-deafness-hand syndrome
	Very frequent - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Defect / anomaly of lacrimal system - Depressed nasal bridge - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat face - Flattened nose - Hypertelorism - Microstomia / little mouth - Narrow face - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Short / small nose - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Camptodactyly of some fingers
Spinocerebellar ataxia type 17
(no data available)