Phenotype #0000223867

Individual ID 00296455
Associated disease ?
Diagnosis/Initial Weaver syndrome
Diagnosis/Definite IMMAS
Phenotype details see paper; ..., overgrowth; macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; no intellectual disability; no hypotonia; advanced bone age(14y at 13y); toe camptodactyly or clinodactyly; cubitus valgus,; no excessive loose skin; pigmented nevi; pigmented nevi
Inheritance Isolated (sporadic)
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-04-06 16:03:14 +02:00 (CEST)
Date last edited 2020-04-06 17:24:42 +02:00 (CEST)

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