Global Variome shared LOVD

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

Phenotype #0000058466 Individual ID 00078698 Associated disease CISS Phenotype details hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no retinitis pigmentosa (-HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), no full cheeks (-HP:0000293), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371),; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); 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 00y07m Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-07-21 13:39:44 +02:00 (CEST) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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