Global Variome shared LOVD

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Phenotype #0000000737 Individual ID 00001555 Associated disease CSS Diagnosis/Initial - Diagnosis/Definite CSS Phenotype details no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no growth abnormality (-HP:0001507); severe speech delay (HP:0000750); mild intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small nails (-HP:0001792);; ;; Inheritance Isolated (sporadic) Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Gijs Santen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Ivo F.A.C. Fokkema Date created 2013-06-28 17:52:20 +02:00 (CEST) Date last edited 2020-07-26 12:38:06 +02:00 (CEST)

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