Phenotype #0000016135

Individual ID 00017799
Associated disease JBTS1
Inheritance Isolated (sporadic)
Phenotype details gross motor/communication delays, increased tone/reflexes, bilateral talipes equinovarus deformity (clubfeet); 15m no evidence cardiovascular/renal/liver disease (ultrasound, laboratory testing, brain MRI revealed molar tooth sign
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-06-28 23:21:08 +02:00 (CEST)
Date last edited N/A

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