8q24.3 microdeletion syndrome




Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 24783653
 Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.
Genet Couns. 2014;25(1):35-9.
Brachycephaly
Brain Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 9 Craniofacial Abnormalities Developmental Disabilities Facies Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Magnetic Resonance Imaging Muscular Atrophy Trisomy
2
(33.7%)		 30078240
 [Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].
Liang Y, Ye J, Wei H, Ye F, Luo XP.
Zhonghua Er Ke Za Zhi. 2018;56(8):592-596.
High palate Long philtrum
A2ML1 BRAF GH1 IGF1 IGFBP3 KRAS NRAS PTPN11 PUF60 RAF1 RASA2 RIT1 SHOC2 SOS1
c|DEL|931_934| p|FS|T|311|Q|47
Child Congenital Heart Defects Heterozygote Homo sapiens Intracellular Signaling Peptides and Proteins Male Mutation Noonan Syndrome RNA Splicing Factors Repressor Proteins Syndrome
3
(4.0%)		 30352594
(6199733)
 Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X.
BMC Med Genomics. 2018;11(1):92.
Intellectual disability
Asians Child, Preschool China Chromosomes, Human, Pair 3 Gene Deletion Heterozygote Homo sapiens Intellectual Disability Male RNA Splicing Factors Repressor Proteins Whole Exome Sequencing
        

Phenotype(s) retrieved from Orphanet

    Total: 101

HPO ID Term Frequency
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000321 Square face Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000358 Posteriorly rotated ears Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000729 Autistic behavior Frequent (79-30%)
HP:0001155 Abnormality of the hand Frequent (79-30%)
HP:0001388 Joint laxity Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001627 Abnormal heart morphology Frequent (79-30%)
HP:0002474 Expressive language delay Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004220 Short middle phalanx of the 5th finger Frequent (79-30%)
HP:0007663 Reduced visual acuity Frequent (79-30%)
HP:0008081 Pes valgus Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0010722 Asymmetry of the ears Frequent (79-30%)
HP:0011470 Nasogastric tube feeding in infancy Frequent (79-30%)
HP:0040019 Finger clinodactyly Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000076 Vesicoureteral reflux Occasional (29-5%)
HP:0000077 Abnormality of the kidney Occasional (29-5%)
HP:0000122 Unilateral renal agenesis Occasional (29-5%)
HP:0000125 Pelvic kidney Occasional (29-5%)
HP:0000300 Oval face Occasional (29-5%)
HP:0000308 Microretrognathia Occasional (29-5%)
HP:0000341 Narrow forehead Occasional (29-5%)
HP:0000480 Retinal coloboma Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000527 Long eyelashes Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000577 Exotropia Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000609 Optic nerve hypoplasia Occasional (29-5%)
HP:0000744 Low frustration tolerance Occasional (29-5%)
HP:0000752 Hyperactivity Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000774 Narrow chest Occasional (29-5%)
HP:0000817 Poor eye contact Occasional (29-5%)
HP:0000891 Cervical ribs Occasional (29-5%)
HP:0000954 Single transverse palmar crease Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001374 Congenital hip dislocation Occasional (29-5%)
HP:0001385 Hip dysplasia Occasional (29-5%)
HP:0001518 Small for gestational age Occasional (29-5%)
HP:0001562 Oligohydramnios Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001660 Truncus arteriosus Occasional (29-5%)
HP:0001674 Complete atrioventricular canal defect Occasional (29-5%)
HP:0001680 Coarctation of aorta Occasional (29-5%)
HP:0001738 Exocrine pancreatic insufficiency Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0001838 Rocker bottom foot Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002015 Dysphagia Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002098 Respiratory distress Occasional (29-5%)
HP:0002101 Abnormal lung lobation Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002283 Global brain atrophy Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0002943 Thoracic scoliosis Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0003097 Short femur Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)
HP:0005176 Dysplastic aortic valve Occasional (29-5%)
HP:0005306 Capillary hemangioma Occasional (29-5%)
HP:0005484 Postnatal microcephaly Occasional (29-5%)
HP:0006695 Atrioventricular canal defect Occasional (29-5%)
HP:0007633 Bilateral microphthalmos Occasional (29-5%)
HP:0009237 Short 5th finger Occasional (29-5%)
HP:0009796 Branchial cyst Occasional (29-5%)
HP:0010109 Short hallux Occasional (29-5%)
HP:0010511 Long toe Occasional (29-5%)
HP:0010529 Echolalia Occasional (29-5%)
HP:0010609 Skin tags Occasional (29-5%)
HP:0010733 Naevus flammeus of the eyelid Occasional (29-5%)
HP:0011067 Mesiodens Occasional (29-5%)
HP:0011220 Prominent forehead Occasional (29-5%)
HP:0011332 Hemifacial hypoplasia Occasional (29-5%)
HP:0011406 Infancy onset short-trunk short stature Occasional (29-5%)
HP:0011755 Ectopic posterior pituitary Occasional (29-5%)
HP:0012304 Hypoplastic aortic arch Occasional (29-5%)
HP:0012584 Bilateral renal hypoplasia Occasional (29-5%)
HP:0100033 Tics Occasional (29-5%)
HP:0100807 Long fingers Occasional (29-5%)
HP:0410003 Cleft maxillary alveolus Occasional (29-5%)
HP:3000038 Abnormal cricoid cartilage morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PUF60 poly(U) binding splicing factor 60 22827