ODCs

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1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Watson syndrome

Autosomal dominant Charcot-Marie-Tooth disease type 2O


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NF1	(0.14)	DYNC1H1

Citations in the biomedical literature:

Watson syndrome		Autosomal dominant Charcot-Marie-Tooth disease type 2O
	Synonym(s): - Pulmonic stenosis with 'cafe-au-lait' spots		Synonym(s): - CMT2O

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical cardiac 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Watson syndrome
	Very frequent - Autosomal dominant inheritance - Broad forehead - Cafe-au-lait spot - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Excess nuchal skin without pterygium colli - Excessive freckling - Hypertelorism - Philtrum deeply grooved - Philtrum flat / large / featureless / absent cupidon bows - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Short neck - Short stature / dwarfism / nanism Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Pectus excavatum - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Triangular face - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Hypotonia - Kyphosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
(no data available)