Phenotype #0000058469

Individual ID 00078701
Associated disease CISS
Phenotype details hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); episodic fever (HP:0001954); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 00y11m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-07-21 14:02:15 +02:00 (CEST)
Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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