Phenotype #0000326305

Individual ID	00436121
Associated disease	?
Diagnosis/Initial	intellectual disability, digital anomalies
Diagnosis/Definite	-
Phenotype details	see paper; ..., fetal ultrasound unremarkable, birth at term, weight 3,000g (50th centile), length 50cm (-1.3 SD); length 105cm (<3rd centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; intellectual disability/developmental delay
Inheritance	Familial, autosomal recessive
Age/Examination	5y6m (5 years, 6 months)
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	2023-08-10 22:14:44 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD