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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

Watson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

17q11 microdeletion syndrome

Watson syndrome

NF1	(UniProt - OMIM)		NF1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


COMMON GENES	NF1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Watson syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Pulmonic stenosis with 'cafe-au-lait' spots

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical cardiac disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown 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
17q11 microdeletion syndrome
(no data available)