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 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema