9p13 microdeletion syndrome

9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 25954594
(4423402)
 Do novo del(9)(p13) in a childhood T-cell prolymphocytic leukemia as sole abnormality.
Wafa A, Aljapawe A, Othman MA, Liehr T, Alhourani E, Al Achkar W.
Exp Hematol Oncol. 2014;3:28.
Hepatosplenomegaly
CDKN2A H3F3AP4
1
(4.0%)		 10748408
 Deletion (9) (p13.1 p21.1).
Scaglia F, Bodamer OA, Berend SA, Adam LR, Shaffer LG.
Am J Med Genet. 2000;91(2):113-5.
Seizure
ELN
Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 9 Dementia, Vascular Developmental Disabilities Face Facies Females Homo sapiens Infant Models, Genetic Monosomy
1
(4.0%)		 9578087
 Inflammatory myofibroblastic tumor: cytogenetic evidence supporting clonal origin.
Su LD, Atayde-Perez A, Sheldon S, Fletcher JA, Weiss SW.
Mod Pathol. 1998;11(4):364-8.
Neoplasm
CHP1 H3F3AP4 NT5C3A S100A10 TMED2
Aneuploidy Child, Preschool Females Fluorescent in Situ Hybridization Histocytochemistry Homo sapiens Infant Male Mosaicism Peritoneal Diseases Plasma Cell Granuloma, Pulmonary
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000308 Microretrognathia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0001336 Myoclonus Very frequent (99-80%)
HP:0003763 Bruxism Very frequent (99-80%)
HP:0007018 Attention deficit hyperactivity disorder Very frequent (99-80%)
HP:0011342 Mild global developmental delay Very frequent (99-80%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000565 Esotropia Frequent (79-30%)
HP:0002378 Hand tremor Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:3000022 Abnormality of cartilage of external ear Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000403 Recurrent otitis media Occasional (29-5%)
HP:0000540 Hypermetropia Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000826 Precocious puberty Occasional (29-5%)
HP:0000957 Cafe-au-lait spot Occasional (29-5%)
HP:0000958 Dry skin Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001795 Hyperconvex nail Occasional (29-5%)
HP:0001800 Hypoplastic toenails Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0003241 External genital hypoplasia Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0010489 Absent palmar crease Occasional (29-5%)
HP:0011330 Metopic synostosis 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