ODCs

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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

2 OMIM references -
3 associated genes
18 signs/symptoms

Monosomy 22q13

WAGR syndrome

SHANK3	(UniProt - OMIM)		BDNF	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHANK3	(0.52)	PAX6

Citations in the biomedical literature:

Monosomy 22q13		WAGR syndrome
	Synonym(s): - 22q13 deletion - Phelan-McDermid syndrome		Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		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 (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: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 2 MeSH references: C538295 / D017624


COMMON SIGNS	- Generalized obesity - Intellectual deficit / mental / psychomotor retardation / learning disability - Ptosis

Monosomy 22q13		WAGR syndrome
	Very frequent - Advanced bone age - Hypotonia - Insensitivity to pain - Large hand - Long / thick / curved lashes / trichomegaly / polytrichia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / hypoplastic toenails Frequent - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Deepset eyes / enophthalmos - Dolichocephaly / scaphocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat face - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Long / large / bulbous nose - Pointed chin - Psychic / behavioural troubles - Puffy eyelids - Sacral sinus / dimple - Thick / bushy eyebrows Occasional - Anomalies of teeth and dentition - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Hearing loss / hypoacusia / deafness - Lymphedema - Macrocephaly / macrocrania / megalocephaly / megacephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Umbilical hernia		Very frequent - Aniridia / iris hypoplasia Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Protruding lips - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis