Phenotype #0000139686

Individual ID 00174861
Associated disease PSS
Phenotype details intellectual disability, facial dysmorphism, narrow nose, mild craniofacial asymmetry and thin corpus callosum, hypoplasia of inferior cerebellar vermis, nystagmus, hypotonia, iris hypoplasia, superior atypical coloboma, foveal hypoplasia; no large ears, no multiple exostoses, no parietal foramina
Diagnosis/Initial Gillespie syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y08m (8 months)
Age/Onset -
Phenotype/Onset -
Protein -
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 2018-08-13 21:05:48 +02:00 (CEST)
Date last edited N/A

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