3q27.3 microdeletion syndrome

3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 25038125
 An additional patient with 3q27.3 microdeletion syndrome.
Castori M, Bottillo I, Laino L, Morlino S, Grammatico B, Grammatico P.
J Child Neurol. 2015;30(4):500-4.
Optic atrophy
AHSG GP5 OPA1
Chromosome Deletion Chromosomes, Human, Pair 3 Homo sapiens Male Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000385 Small earlobe Very frequent (99-80%)
HP:0000417 Slender nose Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000709 Psychosis Very frequent (99-80%)
HP:0001519 Disproportionate tall stature Very frequent (99-80%)
HP:0001575 Mood changes Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000678 Dental crowding Frequent (79-30%)
HP:0000738 Hallucinations Frequent (79-30%)
HP:0000746 Delusions Frequent (79-30%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0002751 Kyphoscoliosis Frequent (79-30%)
HP:0007074 Thick corpus callosum Occasional (29-5%)


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