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Monosomy 22q13
1 OMIM reference -
1 associated gene
23 connected diseases
35 signs/symptoms
Disease Type of connection
Distal 22q11.2 microdeletion syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal agammaglobulinemia
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Chronic myeloid leukemia
Dubin-Johnson syndrome
Early infantile epileptic encephalopathy
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
SHORT syndrome
Spondylocarpotarsal synostosis
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Synonym(s):
- 22q13 deletion
- Phelan-McDermid syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SHANK3 Q9BYB0606230
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
- Ptosis
- 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
- 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