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2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

WAGR syndrome

Weaver syndrome

BDNF	(UniProt - OMIM)		EZH2	(UniProt - OMIM)
PAX6	(UniProt - OMIM)		NSD1	(UniProt - OMIM)
WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WT1	(0.63)	EZH2

Citations in the biomedical literature:

WAGR syndrome		Weaver syndrome
	Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit		Synonym(s): - Camptodactyly - overgrowth - unusual facies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: unknown 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 2 MeSH references: C538295 / D017624		External references: 1 OMIM reference - 1 MeSH reference: C536687


COMMON SIGNS	- Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Undescended / ectopic testes / cryptorchidia / unfixed testes

WAGR syndrome		Weaver syndrome
	Very frequent - Aniridia / iris hypoplasia Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Nystagmus - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Wide space between 1st-2nd toes