Phenotype #0000084333

Individual ID 00106520
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, Brain MRI: bilateral nonspecific multifocal white matter lesions; Prominent nose, Ocular hypertelorism, epicantal folds, up-slanting palpebral fissures, Advanced bone age; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)
Age/Examination 10y00m (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Bernt Popp
Database submission license No license selected
Created by Bernt Popp
Date created 2017-07-02 21:35:38 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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