Individual #00001556

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Gijs Santen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema


Phenotypes

Coffin-Siris syndrome (CSS) (CSS)   Add phenotype for this disease

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Owner     
0000000738 - CSS brith 40w, weight SD -4, OFC 33 cm; Congenital heart,disease (Aort quartation, PFO; MRI-brain ventricular asymmetry, myelination delay, mega sisterma magna; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); cutis marmorata (HP:0000965); no seizures (-HP:0001250); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; multiple small nails (incl. 5th); prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); cardiac abnormality (HP:0001627); Isolated (sporadic) 03y - - - - Gijs Santen



Screenings


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Owner     
0000001327 DNA SEQ - - ARID1B, SMARCA4, SMARCB1 Not yet submitted Gijs Santen
0000001364 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

Stop! No entries found!