ODCs

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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Watson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Myhre syndrome

Watson syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.68)	NF1

Citations in the biomedical literature:

Myhre syndrome		Watson syndrome
	Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss		Synonym(s): - Pulmonic stenosis with 'cafe-au-lait' spots

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


COMMON SIGNS	- Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Myhre syndrome		Watson syndrome
	Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intrauterine growth retardation - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Prognathism / prognathia - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short philtrum - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Thick skin / pachydermia / orange skin Occasional - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Precocious puberty - Psychic / behavioural troubles		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 - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Short neck Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Long / large ear - Pectus excavatum - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Triangular face Occasional - Hypotonia - Kyphosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia