Phenotype #0000016076

Individual ID 00017750
Associated disease CISS
Phenotype details intermediate; flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no high palate (-HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Insa Buers
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-09-19 13:06:10 +02:00 (CEST)
Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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