Individual #00303198

ID_report CDLX1249P
Reference PubMed: Kaiser 2014
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CDLS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-08 09:10:42 +02:00 (CEST)
Date last edited N/A


Phenotypes

Cornelia de Lange syndrome (CDLS) (CDLS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000230282 mild; brachycephaly, orthotic helmet; no low anterior hairline, widow's peak; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids, astigmatism; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, delayed eruption, micrognathia/retrognathia; no short neck; grimacing smile; no cutis marmorata, no hirsutism, nevus flameus, Hair and nails grow slowly; small hands, proximally set thumbs, no single transverse palmar crease; syndactyly toes 2,3; no restriction elbow movements; mild pectus carniatum, sacral dimple ; no caridac defects; genitourinary defect, Vesicoureteral reflux s/p surgical correction. Hypertension, renal cysts; gastroesophageal reflux; hiatal hernia; hearing loss, mild left SNHL; no anomalies CNS; 6m-possible seizure; intellectual disability; trouble staying asleep; speech 3.5y-no words, 10 gestures, 4y3m-25 words; rolled-10m, sat-12m, crawl-14m, walk-24m; prenatal: 2 vessel cord, late IUGR; birth 38w, birth weight 2330g (SD -1,3), length 47cm (SD -0,6), OFC 31.5cm (SD -1,3); weight 13.8kg (Z -1,4), height 95cm (Z -1,7), OFC 47cm (SD -1,7); no obesity Cornelia De Lange Syndrome CDLS5 Unknown 4y3m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304323 DNA SEQ - - HDAC8 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic (dominant) g.71681927G>A g.72462077G>A - - HDAC8_000042 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen HDAC8 - - - - 9 NM_018486.2:c.932C>T - r.(?) p.(Thr311Met) - - - - - - - - - - - - - -
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