Phenotype #0000270766

Individual ID 00375552
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite VERBRAS
Phenotype details no intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; no structural brain abnormalities
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Zeynep Tümer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Zeynep Tümer
Date created 2021-06-11 10:15:24 +02:00 (CEST)
Date last edited 2021-06-14 21:47:13 +02:00 (CEST)

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