Phenotype #0000203971

Individual ID 00266194
Associated disease ?
Diagnosis/Initial Marfanoid-like
Diagnosis/Definite -
Phenotype details developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 6y-small patent ductal arteriosus; tall stature, scoliosis, no pectus, slender limbs, joint laxity, no camptodactyly, arachnodactyly
Inheritance Familial, X-linked recessive
Age/Examination -
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