Phenotype #0000016085

Individual ID 00017759
Associated disease CISS
Phenotype details intermediate; hyperkyphosis; no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no poor swallowing (-HP:0002015); cold induced sweating (HP:0025278)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 13y (13 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 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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