Monosomy 13q34

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.



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

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0003256 Abnormality of the coagulation cascade Frequent (79-30%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000358 Posteriorly rotated ears Occasional (29-5%)
HP:0000363 Abnormality of earlobe Occasional (29-5%)
HP:0000421 Epistaxis Occasional (29-5%)
HP:0000855 Insulin resistance Occasional (29-5%)
HP:0001397 Hepatic steatosis Occasional (29-5%)
HP:0001642 Pulmonic stenosis Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0002573 Hematochezia Occasional (29-5%)
HP:0003645 Prolonged partial thromboplastin time Occasional (29-5%)
HP:0008151 Prolonged prothrombin time Occasional (29-5%)
HP:0010945 Fetal pyelectasis Occasional (29-5%)
HP:0011228 Horizontal eyebrow Occasional (29-5%)
HP:0011565 Common atrium Occasional (29-5%)
HP:0100608 Metrorrhagia Occasional (29-5%)
HP:0001162 Postaxial hand polydactyly Very rare (4-1%)
HP:0001274 Agenesis of corpus callosum Very rare (4-1%)
HP:0001830 Postaxial foot polydactyly Very rare (4-1%)
HP:0008250 Infantile hypercalcemia Very rare (4-1%)
HP:0040180 Hyperkeratosis pilaris Very rare (4-1%)
HP:0040188 Osteochondrosis 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