Individual #00207586

ID_report Patient
Reference PubMed: Coutton et al., 2013
Remarks Clinical and molecular characterization of a patient with de novo 1p36.11 microduplication including PIGV and ARID1A in a girl with intellectual disability and hexadactyly
Gender F
Consanguinity no
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MRT
Owner name Philippe Campeau


Phenotypes

mental retardation, autosomal recessive (MRT, intellectual disability (IDT)) (MRT)   Add phenotype for this disease

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Owner     
0000155397 Four‐limb postaxial hexadactyly. Facial dysmorphic features (broad nasal bridge and tip, short philtrum, thin upper lip, abnormal ears, spare scalp hairs), severe microcephaly of prenatal onset and overlapping toes. She also suffered of constipation, gastro‐oesophageal reflux, feeding problems and eczema in relation to a cow's milk protein allergy. Motor skills delay, severe developmental and speech delay. Serum ALP level was normal. - - Unknown - - - - - Philippe Campeau



Screenings


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Owner     
0000208623 DNA arrayCGH;FISH - - PIGV 1 Philippe Campeau



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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Protein level     
1 Unknown +/. g.27001256_27190935dup - - - PIGV_000024 - - - - De novo - - - 0 - Philippe Campeau PIGV - - - - - - NM_017837.3:c.-113561_*66600dup - - r.0? p.0? - - - - - - - - - - - - - - - - - - -
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