Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000016094 Individual ID 00017768 Associated disease CISS Phenotype details intermediate; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); no scoliosis (-HP:0002650); no camptodactyly (-HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no episodic fever (-HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Insa Buers Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-03-04 16:41:11 +01:00 (CET) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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