Distal Xq28 microduplication syndrome

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000179 Thick lower lip vermilion Very frequent (99-80%)
HP:0000194 Open mouth Very frequent (99-80%)
HP:0000200 Short lingual frenulum Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000327 Hypoplasia of the maxilla Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000421 Epistaxis Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000678 Dental crowding Very frequent (99-80%)
HP:0000716 Depressivity Very frequent (99-80%)
HP:0000718 Aggressive behavior Very frequent (99-80%)
HP:0000729 Autistic behavior Very frequent (99-80%)
HP:0000739 Anxiety Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000817 Poor eye contact Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001643 Patent ductus arteriosus Very frequent (99-80%)
HP:0001655 Patent foramen ovale Very frequent (99-80%)
HP:0001840 Metatarsus adductus Very frequent (99-80%)
HP:0002099 Asthma Very frequent (99-80%)
HP:0002788 Recurrent upper respiratory tract infections Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0003265 Neonatal hyperbilirubinemia Very frequent (99-80%)
HP:0003324 Generalized muscle weakness Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007018 Attention deficit hyperactivity disorder Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0010862 Delayed fine motor development Very frequent (99-80%)
HP:0011234 Absent antihelix Very frequent (99-80%)
HP:0011730 Abnormality of central sensory function Very frequent (99-80%)
HP:0012172 Stereotypical body rocking Very frequent (99-80%)
HP:0012724 Upper eyelid edema Very frequent (99-80%)
HP:0030051 Tip-toe gait Very frequent (99-80%)
HP:0100710 Impulsivity Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)
HP:0003550 Predominantly lower limb lymphedema Frequent (79-30%)
HP:0012169 Self-biting Frequent (79-30%)
HP:0030084 Clinodactyly Frequent (79-30%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000957 Cafe-au-lait spot 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