Phenotype #0000270213

Individual ID	00375003
Associated disease	?
Diagnosis/Initial	cardiofaciocutaneous syndrome
Diagnosis/Definite	-
Phenotype details	born 33w, FTT, GE reflux, G-tube, otitis media with myringotomy tube, hypogammoglobinemia and lymphopenia, hyperkeratosis pilaris, dry skin; short stature, <5%ile; weight <5%ile; developmental delay; motor delay, walk-4y; almost no speech; autistic-like behavior, self-injurious behavior, irritability; ptosis, proptosis with long philtrum, thick lips, high forehead, triangular facies, coarse/curly hair, sparse eyebrows; mild scoliosis; congenital mild pulmonic stenosis; seizures; negative panels for RASopathies
Inheritance	Isolated (sporadic)
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-28 11:34:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD