11q22.2q22.3 microdeletion syndrome

11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000739 Anxiety Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000341 Narrow forehead Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000358 Posteriorly rotated ears Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000722 Obsessive-compulsive behavior Occasional (29-5%)
HP:0000736 Short attention span Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0000753 Autism with high cognitive abilities Occasional (29-5%)
HP:0000817 Poor eye contact Occasional (29-5%)
HP:0000953 Hyperpigmentation of the skin Occasional (29-5%)
HP:0001028 Hemangioma Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001773 Short foot Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002194 Delayed gross motor development Occasional (29-5%)
HP:0002307 Drooling Occasional (29-5%)
HP:0002421 Poor head control Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases Occasional (29-5%)
HP:0011368 Epidermal thickening Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)
HP:0012433 Abnormal social behavior Occasional (29-5%)
HP:0012448 Delayed myelination Occasional (29-5%)
HP:0012758 Neurodevelopmental delay Occasional (29-5%)
HP:0030190 Oral motor hypotonia Occasional (29-5%)
HP:0200034 Papule Occasional (29-5%)
HP:0200055 Small hand Occasional (29-5%)
HP:0000708 Behavioral abnormality Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID