Phenotype #0000058470

Individual ID	00078702
Associated disease	CISS
Phenotype details	no hyperthermia (-HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), no joint contractures (-HP:0001371), psychomotor retardation (HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); no episodic fever (-HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	00y05m15d
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-07-21 14:10:24 +02:00 (CEST)
Date last edited	2020-04-07 11:38:19 +02:00 (CEST)

Global Variome shared LOVD