Phenotype #0000037261

Individual ID 00050649
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details duane anomaly, dandy-walker malformation, anal fistula, global developmental delay, abnormality of the face, cryptorchidism, abnormality of the ear, bilateral single transverse palmar creases, frontal bossing, prominent fingertip pads, abnormality of limb bone morphology, epicanthus, preauricular pit, downslanted palpebral fissures, deeply set eye, agenesis of cerebellar vermis, enlarged cisterna magna
Inheritance Isolated (sporadic)
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
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited N/A

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