ODCs

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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
40 signs/symptoms

Monosomy 22q13

SHORT syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHANK3	(0.63)	PIK3R1

Citations in the biomedical literature:

Monosomy 22q13		SHORT syndrome
	Synonym(s): - 22q13 deletion - Phelan-McDermid syndrome		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

	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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Anomalies of teeth and dentition - Broad nasal root - Clinodactyly of fifth finger - Deepset eyes / enophthalmos - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Monosomy 22q13		SHORT syndrome
	Very frequent - Advanced bone age - Hypotonia - Insensitivity to pain - Large hand - Long / thick / curved lashes / trichomegaly / polytrichia - Thin / hypoplastic toenails Frequent - Broad cheeks / cherub-like / cherubin face - 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 - Ptosis - Puffy eyelids - Sacral sinus / dimple - Thick / bushy eyebrows Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Generalized obesity - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphedema - Macrocephaly / macrocrania / megalocephaly / megacephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Umbilical hernia		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism Frequent - Abnormal fat distribution / lipodystrophy - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Short hand / brachydactyly - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic