Individual #00303170

ID_report D11-209P
Reference PubMed: Kaiser 2014
Remarks affected son
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel ID 00303169
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     
0000230254 severe; brachycephaly; low anterior hairline; very large anterior and posterior fontanelles; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, cleft palate, submucous cleft, widely spaced teeth, gap between upper incisors, oligodontia, fused incisor, no micrognathia/no retrognathia; short neck; no cutis marmorata, no hirsutism, nevus flameus; , proximally set thumbs, clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; no syndactyly toes; no restriction elbow movements; genitourinary defect, micropenis cryptorchidism; gastroesophageal reflux; feeding problems in infancy ; hiatal hernia; hearing loss; no seizures ; intellectual disability; very pleasant; speech 3y-3 words; sit unstable-3y; weight 8,7kg (Z -2,2), height 72cm (Z -2,2), OFC 45cm (SD -1,5); no obesity Cornelia De Lange Syndrome CDLS5 Unknown 14m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304295 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     

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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 Maternal (confirmed) +/. - pathogenic (dominant) g.(?_71549304)_(71551130_?)del - del chrX:71549304-71551130 - HDAC8_000036 - PubMed: Kaiser 2014 - - Germline - - - - - Johan den Dunnen HDAC8 - - - - 10i_11_ NM_018486.2:c.1112-1204_*538[0] - r.? p.? - - - - - - - - - - - - - -
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