Individual #00001552

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     
0000000734 - CSS brith 41w, weight SD -1, OFC 34 cm; Bulbous/wide nasal tip, downturned corners of mouth; MRI-brain hypoplastic left cerebellar lobe; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799); no prominent distal phalange, cone shaped epiphyses (HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483); strabismus (HP:0000486) Isolated (sporadic) 09y - - - - Gijs Santen



Screenings


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Owner     
0000001323 DNA SEQ - - ARID1B, SMARCA4, SMARCB1 Not yet submitted Gijs Santen



Variants

Stop! No entries found!